A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits
Open accessAbstract
Background Selective mutism (SM), considered an early-onset variant of social anxiety disorder, shares features of impaired social interaction and communication with autism spectrum disorders (ASDs) suggesting a possible shared pathophysiology. We examined association of a susceptibility gene, contactin-associated protein-like 2 (CNTNAP2), for ASDs and specific language impairment with SM and social anxiety-related traits.Methods Sample 1 subjects were 99 nuclear families including 106 children with SM. Sample 2 subjects were young adults who completed measures of social interactional anxiety (n = 1028) and childhood behavioral inhibition (n = 920). Five single nucleotide polymorphisms in CNTNAP2 (including rs7794745 and rs2710102, previously associated with ASDs) were genotyped.Results Analyses revealed nominal significance (p = .018) for association of SM with rs2710102, which, with rs6944808, was part of a common haplotype associated with SM (permutation p = .022). Adjusting for sex and ancestral proportion, each copy of the rs2710102*a risk allele in the young adults was associated with increased odds of being >1 SD above the mean on the Social Interactional Anxiety Scale (odds ratio = 1.33, p = .015) and Retrospective Self-Report of Inhibition (odds ratio = 1.40, p = .010).Conclusions Although association was found with rs2710102, the risk allele (a) for the traits studied here is the nonrisk allele for ASD and specific language impairment. These findings suggest a partially shared etiology between ASDs and SM and raise questions about which aspects of these syndromes are potentially influenced by CNTNAP2 and mechanism(s) by which these influences may be conveyed.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Variants in CNTNAP2 have been linked to mutism and social anxiety.
“Recently, CNTNAP2 variants have been associated with mutism and social anxiety [67].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [67]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Falush, D., Stephens, M., & Pritchard, J. K. (2003) · Genetics · doi:10.1093/genetics/164.4.1567 · Cited by 7,920 · see citing works
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520 · see citing works
Simonoff, E., Pickles, A., Charman, T., Chandler, S., Loucas, T., & Baird, G. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e318179964f · Cited by 3,399 · see citing works
Mattick, R. P., & Clarke, J. C. (1998) · Behaviour Research and Therapy · doi:10.1016/s0005-7967(97)10031-6 · Cited by 3,367 · see citing works
Lichtenstein, P., Yip, B. H., Björk, C., Pawitan, Y., Cannon, T. D., Sullivan, P. F., & Hultman, C. M. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60072-6 · Cited by 2,125 · see citing works
Association mapping in structured populations.
Pritchard, J. K., Stephens, M., Rosenberg, N., & Donnelly, P. (2000) · American Journal of Human Genetics · doi:10.1086/302959 · Cited by 2,066 · see citing works
Autism screening questionnaire: diagnostic validity
Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999) · British Journal of Psychiatry · doi:10.1192/bjp.175.5.444 · Cited by 1,464 · see citing works
Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies
Pritchard, J. K., & Rosenberg, N. A. (1999) · The American Journal of Human Genetics · doi:10.1086/302449 · Cited by 1,198 · see citing works
SILVERMAN, W. K., SAAVEDRA, L. M., & PINA, A. A. (2001) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200108000-00016 · Cited by 1,190 · see citing works
Stein, M. B., & Stein, D. J. (2008) · The Lancet · doi:10.1016/s0140-6736(08)60488-2 · Cited by 1,137 · see citing works
Self-citationLinkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.005 · Cited by 818 · see citing works
Horvath, S., Xu, X. P., & Laird, N. M. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200625 · Cited by 739 · see citing works
A functional genetic link between distinct developmental language disorders
Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802828 · Cited by 676 · see citing works
Variants in Nicotinic Receptors and Risk for Nicotine Dependence
Bierut, L. J., Stitzel, J. A., Wang, J. C., Hinrichs, A. L., Grucza, R. A., Xuei, X., Saccone, N. L., Saccone, S. F., Bertelsen, S., Fox, L., et al. (2008) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.07111711 · Cited by 648 · see citing works
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., Stephan, D. A., & Morton, D. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052773 · Cited by 630 · see citing works
A genome-wide linkage and association scan reveals novel loci for autism
The Gene Discovery Project of Johns Hopkins & the Autism Consortium, Weiss, L. A., & Arking, D. E. (2009) · Nature · doi:10.1038/nature08490 · Cited by 619 · see citing works
Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., Cook, E. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.015 · Cited by 590 · see citing works
FOXP2 as a molecular window into speech and language
Fisher, S. E., & Scharff, C. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.03.002 · Cited by 541 · see citing works
Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A. A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.017 · Cited by 537 · see citing works
Social anxiety disorder: questions and answers for the DSM-V
Bögels, S. M., Alden, L., Beidel, D. C., Clark, L. A., Pine, D. S., Stein, M. B., & Voncken, M. (2010) · Depression and Anxiety · doi:10.1002/da.20670 · Cited by 526 · see citing works
Self-citationSukhodolsky, D. G., Scahill, L. D., Gadow, K. D., Arnold, L. E., Aman, M. G., McDougle, C. J., McCracken, J. T., Tierney, E., White, S. W., Lecavalier, L., et al. (2007) · Research on Child and Adolescent Psychopathology · doi:10.1007/s10802-007-9165-9 · Cited by 524 · see citing works
Geschwind, D. H. (2009) · Annual Review of Medicine · doi:10.1146/annurev.med.60.053107.121225 · Cited by 512 · see citing works
Social Anxiety in High-functioning Children and Adolescents with Autism and Asperger Syndrome
Kuusikko, S., Pollock, R. A., Jussila, K. K., Carter, A. S., Mattila, M., Ebeling, H. E., Pauls, D. L., & Moilanen, I. K. (2008) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0555-9 · Cited by 396 · see citing works
Horvath, S., Xu, X. P., Lake, S. L., Silverman, E. K., Weiss, S. T., & Laird, N. M. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10295 · Cited by 391 · see citing works
Piven, J., & Palmer, P. (1999) · American Journal of Psychiatry · doi:10.1176/ajp.156.4.557 · Cited by 364 · see citing works
Autism: Many Genes, Common Pathways?
Geschwind, D. H. (2008) · Cell · doi:10.1016/j.cell.2008.10.016 · Cited by 328 · see citing works
Elective Mutism: An Analysis of 100 Cases
Steinhausen, H.-C., & JUZI, C. (1996) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199605000-00015 · Cited by 311 · see citing works
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H. W., Knoers, N. V. A. M., Cahn, W., Kahn, R. S., Edelmann, L. J., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002049 · Cited by 297 · see citing works
Prevalence and Description of Selective Mutism in a School-Based Sample
Bergman, R. L., Piacentini, J. C., & McCracken, J. T. (2002) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200208000-00012 · Cited by 293 · see citing works
Social Anxiety in Outpatients With Schizophrenia: A Relevant Cause of Disability
Pallanti, S., Quercioli, L., & Hollander, E. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.161.1.53 · Cited by 266 · see citing works
The heritability of inhibited and uninhibited behavior: A twin study.
Robinson, J. L., Kagan, J., Reznick, J. S., & Corley, R. P. (1992) · Developmental Psychology · doi:10.1037/0012-1649.28.6.1030 · Cited by 260 · see citing works
Stein, M. B. (2008) · PsycEXTRA Dataset · doi:10.1037/e532272011-001 · Cited by 258 · see citing works
Self-citationScott-Van Zeeland, A. A., Abrahams, B. S., Alvarez-Retuerto, A. I., Sonnenblick, L. I., Rudie, J. D., Ghahremani, D., Mumford, J. A., Poldrack, R. A., Dapretto, M., Geschwind, D. H., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001344 · Cited by 252 · see citing works
O'Dushlaine, C., Kenny, E., Heron, E., Donohoe, G., Gill, M., Morris, D., The International Schizophrenia Consortium, & Corvin, A. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.7 · Cited by 228 · see citing works
Handbook of anxiety disorders.
Hersen, M. (1988) · Pergamon Press eBooks · Cited by 212 · see citing works
Selective mutism: A review and integration of the last 15 years
Viana, A. G., Beidel, D. C., & Rabian, B. A. (2008) · Clinical Psychology Review · doi:10.1016/j.cpr.2008.09.009 · Cited by 209 · see citing works
Cath, D. C., Ran, N., Smit, J. H., van Balkom, A. J. L. M., & Comijs, H. C. (2008) · Psychopathology · doi:10.1159/000111555 · Cited by 206 · see citing works
Arbelle, S., Benjamin, J., Golin, M., Kremer, I., Belmaker, R. H., & Ebstein, R. P. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.4.671 · Cited by 202 · see citing works
Systematic Assessment of 50 Children With Selective Mutism
Dummit, E. S., KLEIN, R. G., TANCER, N. K., ASCHE, B., Martin, J. L., & FAIRBANKS, J. A. (1997) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199705000-00016 · Cited by 200 · see citing works
Autism, affective disorders, and social phobia
Smalley, S. L., McCracken, J. T., & Tanguay, P. E. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320600105 · Cited by 197 · see citing works
Battaglia, M., Ogliari, A. L., Zanoni, A., Citterio, A., Pozzoli, U., Giorda, R., Maffei, C., & Marino, C. (2005) · Archives of General Psychiatry · doi:10.1001/archpsyc.62.1.85 · Cited by 185 · see citing works
Case Study: Elective Mutism as a Variant of Social Phobia
BLACK, B., & Uhde, T. W. (1992) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199211000-00015 · Cited by 179 · see citing works
Autism Spectrum Disorder Scale Scores in Pediatric Mood and Anxiety Disorders
Pine, D. S., Guyer, A. E., Goldwin, M. A., Towbin, K. A., & Leibenluft, E. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e31816bffa5 · Cited by 176 · see citing works
Smoller, J. W., Yamaki, L. H., Fagerness, J. A., Biederman, J., Racette, S., Laird, N. M., Kagan, J., Snidman, N. C., Faraone, S. V., Hirshfeld‐Becker, D. R., et al. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.02.018 · Cited by 168 · see citing works
Reznick, J. S., Hegeman, I. M., Kaufman, E. R., Woods, S. W., & Jacobs, M. (1992) · Development and Psychopathology · doi:10.1017/s095457940000016x · Cited by 159 · see citing works
The Development and Psychometric Properties of the Selective Mutism Questionnaire
Bergman, R. L., Keller, M. L., Piacentini, J. C., & Bergman, A. J. (2008) · Journal of Clinical Child & Adolescent Psychology · doi:10.1080/15374410801955805 · Cited by 154 · see citing works
A Risk Allele for Nicotine Dependence in CHRNA5 Is a Protective Allele for Cocaine Dependence
Grucza, R. A., Wang, J. C., Stitzel, J. A., Hinrichs, A. L., Saccone, S. F., Saccone, N. L., Bucholz, K. K., Cloninger, C. R., Neuman, R. J., Budde, J. P., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.04.018 · Cited by 152 · see citing works
Genetics of autism spectrum disorders
Kumar, R. A., & Christian, S. L. (2009) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-009-0029-2 · Cited by 146 · see citing works
Smoller, J. W., Rosenbaum, J. F., Biederman, J., Kennedy, J. C., Dai, D., Racette, S., Laird, N. M., Kagan, J., Snidman, N. C., Hirshfeld‐Becker, D. R., et al. (2003) · Biological Psychiatry · doi:10.1016/s0006-3223(03)00598-5 · Cited by 140 · see citing works
Selective mutism and social anxiety disorder: All in the family?
CHAVIRA, D. A., SHIPON-BLUM, E., HITCHCOCK, C., COHAN, S., & STEIN, M. B. (2007) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e318149366a · Cited by 127 · see citing works
Self-citationRefining the Classification of Children with Selective Mutism: A Latent Profile Analysis
Cohan, S. L., Chavira, D. A., Shipon-Blum, E., Hitchcock, C. A., Roesch, S. C., & Stein, M. B. (2008) · Journal of Clinical Child & Adolescent Psychology · doi:10.1080/15374410802359759 · Cited by 125 · see citing works
Self-citationSherva, R., Kranzler, H. R., Yu, Y., Logue, M. W., Poling, J. C., Arias, A. J., Anton, R. F., Oslin, D. W., Farrer, L. A., & Gelernter, J. E. (2010) · Neuropsychopharmacology · doi:10.1038/npp.2010.64 · Cited by 120 · see citing works
Self-citationPower Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits
Lange, C., & Laird, N. M. (2002) · The American Journal of Human Genetics · doi:10.1086/342406 · Cited by 119 · see citing works
Tan, G. C. Y., Doke, T. F., Ashburner, J., Wood, N. W., & Frackowiak, R. S. J. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.02.018 · Cited by 116 · see citing works
The Sounds of Silence: Language, Cognition, and Anxiety in Selective Mutism
Manassis, K., Tannock, R., Garland, E., MINDE, K. K., McInnes, A., & Clark, S. L. (2007) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e318076b7ab · Cited by 112 · see citing works
Yang, B., Zhao, H., Kranzler, H. R., & Gelernter, J. E. (2005) · Genetic Epidemiology · doi:10.1002/gepi.20070 · Cited by 111 · see citing works
Self-citationRecent advances in the genetics of language impairment
Newbury, D. F., Fisher, S. E., & Monaco, A. P. (2010) · Genome Medicine · doi:10.1186/gm127 · Cited by 98 · see citing works
Hartley, S. L., & Sikora, D. M. (2009) · Autism · doi:10.1177/1362361309335717 · Cited by 95 · see citing works
Association of Autistic-Like and Internalizing Traits During Childhood: A Longitudinal Twin Study
Hallett, V., Ronald, A., Rijsdijk, F. V., & Happe, F. G. E. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2009.09070990 · Cited by 92 · see citing works
The association between social anxiety and social functioning in first episode psychosis
Voges, M. A., & Addington, J. (2005) · Schizophrenia Research · doi:10.1016/j.schres.2005.01.001 · Cited by 89 · see citing works
Traits contributing to the autistic spectrum
Steer, C. D., Golding, J., & Bolton, P. F. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012633 · Cited by 85 · see citing works
The genetic basis of panic and phobic anxiety disorders
Smoller, J. W., Gardner-Schuster, E. E., & Covino, J. M. (2008) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30174 · Cited by 83 · see citing works
Carbone, D., Schmidt, L. A., Cunningham, C., McHolm, A. E., Edison, S. C., Pierre, J. S., & Boyle, M. H. (2010) · Research on Child and Adolescent Psychopathology · doi:10.1007/s10802-010-9425-y · Cited by 75 · see citing works
Suffering in Silence: Why a Developmental Psychopathology Perspective on Selective Mutism Is Needed
Cohan, S. L., Price, J. M., & Stein, M. B. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200608000-00011 · Cited by 73 · see citing works
Self-citationDissecting the phenotype in genome-wide association studies of psychiatric illness
Craddock, N. J., Kendler, K. S., Neale, M. C., Nürnberger, J. I., Purcell, S., Rietschel, M., Perlis, R. H., Santangelo, S. L., Schulze, T. G., Schulze, T. G., et al. (2009) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.108.063156 · Cited by 72 · see citing works
Narrative Skills in Children With Selective Mutism
McInnes, A., Fung, D. S. S., Manassis, K., Fıksenbaum, L., & Tannock, R. (2004) · American Journal of Speech-Language Pathology · doi:10.1044/1058-0360(2004/031 · Cited by 59 · see citing works
Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population
Li, X., Hu, Z., He, Y., Xiong, Z., Long, Z., Peng, Y., Bu, F., Ling, J., Xun, G., Mo, X., et al. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a216f · Cited by 57 · see citing works
Selective Mutism Questionnaire: Measurement Structure and Validity
Letamendi, A. M., Chavira, D. A., Hitchcock, C. A., Roesch, S. C., Shipon-Blum, E., & Stein, M. B. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e3181825a7b · Cited by 57 · see citing works
Self-citationHallett, V., Ronald, A., & Happe, F. G. E. (2009) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e31819f7116 · Cited by 40 · see citing works
Lysaker, P. H., & Hammersley, J. J. (2006) · Schizophrenia Research · doi:10.1016/j.schres.2006.05.014 · Cited by 39 · see citing works
Reduced Auditory Processing Capacity during Vocalization in Children with Selective Mutism
Arie, M., Henkin, Y., Lamy, D., Tetin-Schneider, S., Apter, A. S., Sadeh, A., & Bar‐Haim, Y. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.02.020 · Cited by 39 · see citing works
Logsdail, S. (1990) · Behaviour Research and Therapy · doi:10.1016/0005-7967(90)90038-k · Cited by 9 · see citing works
Heritability and Genetics of Anxiety Disorders
Gelernter, J. E., & Stein, M. B. (2008) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780195307030.013.0008 · Cited by 7 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Genetics of autism spectrum disorders
Geschwind, D. H. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.003 · Cited by 696 · see citing works
The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders
Smoller, J. W. (2015) · Neuropsychopharmacology · doi:10.1038/npp.2015.266 · Cited by 479 · see citing works
GABA system dysfunction in autism and related disorders: From synapse to symptoms
Coghlan, S., Horder, J., Inkster, B., Méndez, M. A., Murphy, D., & Nutt, D. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.07.005 · Cited by 437 · see citing works
Psychopathology and the Human Connectome: Toward a Transdiagnostic Model of Risk For Mental Illness
Buckholtz, J. W., & Meyer‐Lindenberg, A. (2012) · Neuron · doi:10.1016/j.neuron.2012.06.002 · Cited by 433 · see citing works
The conundrums of understanding genetic risks for autism spectrum disorders
State, M. W., & Levitt, P. (2011) · Nature Neuroscience · doi:10.1038/nn.2924 · Cited by 306 · see citing works
What does CNTNAP2 reveal about autism spectrum disorder?
Peñagarikano, O., & Geschwind, D. H. (2012) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2012.01.003 · Cited by 218 · see citing works
Children who are anxious in silence: A review on selective mutism, the new anxiety disorder in DSM-5
Muris, P., & Ollendick, T. H. (2015) · Clinical Child and Family Psychology Review · doi:10.1007/s10567-015-0181-y · Cited by 180 · see citing works
Synaptic proteins and receptors defects in autism spectrum disorders
Chen, J., Yu, S., Fu, Y., & Li, X. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00276 · Cited by 169 · see citing works
Regulation of neuronal migration, an emerging topic in autism spectrum disorders
Reiner, O., Karzbrun, E., Kshirsagar, A., & Kaibuchi, K. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13403 · Cited by 123 · see citing works
The genetic basis of Gilles de la Tourette Syndrome
Paschou, P. (2013) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2013.01.016 · Cited by 117 · see citing works
Whalley, H. C., O’Connell, G., Sussmann, J. E., Peel, A., Stanfield, A. C., Hayiou‐Thomas, M. E., Johnstone, E. C., Lawrie, S. M., McIntosh, A. M., & Hall, J. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31241 · Cited by 105 · see citing works
Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene, CNTNAP2
Dennis, E. L., Jahanshad, N., Rudie, J. D., Brown, J. A., Johnson, K., McMahon, K. L., de Zubicaray, G. I., Montgomery, G. W., Martin, N. G., Wright, M. J., et al. (2011) · Brain Connectivity · doi:10.1089/brain.2011.0064 · Cited by 101 · see citing works
MouseCntnap2and HumanCNTNAP2ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons
Vogt, D. L., Cho, K. K. A., Shelton, S. M., Paul, A., Huang, Z. J., Sohal, V. S., & Rubenstein, J. L. R. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx248 · Cited by 96 · see citing works
Autism spectrum disorders and coexisting disorders in a nationwide Swedish twin study
Lundström, S., Reichenberg, A., Melke, J., Råstam, M., Kerekes, N., Lichtenstein, P., Gillberg, C., & Anckarsäter, H. S. (2014) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12329 · Cited by 93 · see citing works
Clauss, J. A., Avery, S. N., & Blackford, J. U. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.03.001 · Cited by 90 · see citing works
Selective Mutism and Its Relations to Social Anxiety Disorder and Autism Spectrum Disorder
Muris, P., & Ollendick, T. H. (2021) · Clinical Child and Family Psychology Review · doi:10.1007/s10567-020-00342-0 · Cited by 73 · see citing works
Expression of Cntnap2 (Caspr2) in multiple levels of sensory systems
Gordon, A., Salomon, D., Barak, N., Pen, Y., Tsoory, M., Kimchi, T., & Peles, E. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.11.012 · Cited by 64 · see citing works
Villanueva, P., Nudel, R., Hoischen, A., Fernández, M. A., Simpson, N. H., Gilissen, C., Reader, R. H., Jara, L., Echeverry, M. M., Francks, C., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004925 · Cited by 59 · see citing works
Claudio Toma, A., Pierce, K. D., Shaw, A. D., Heath, A., Mitchell, P. B., Schofield, P. R., & Fullerton, J. M. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007535 · Cited by 47 · see citing works
Hua, A., & Major, N. (2016) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000300 · Cited by 47 · see citing works
Current Challenges in the Diagnosis and Management of Selective Mutism in Children
Muris, P., & Ollendick, T. H. (2021) · Psychology Research and Behavior Management · doi:10.2147/prbm.s274538 · Cited by 44 · see citing works
CNTNAP2 polymorphisms and structural brain connectivity: A diffusion-tensor imaging study
von Hohenberg, C. C., Wigand, M. C. C., Kubicki, M. R., Leicht, G., Giegling, I., Karch, S., Hartmann, A. M., Konte, B., Friedl, M., Ballinger, T., et al. (2013) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.07.002 · Cited by 39 · see citing works
Fears and fear-related cognitions in children with selective mutism
Vogel, F., Gensthaler, A., Stahl, J., & Schwenck, C. (2019) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-019-01281-0 · Cited by 39 · see citing works
Neurogenomics of speech and language disorders: the road ahead
Deriziotis, P., & Fisher, S. E. (2013) · Genome biology · doi:10.1186/gb-2013-14-4-204 · Cited by 36 · see citing works
The genetics of anxiety‐related negative valence system traits
Savage, J. E., Sawyers, C. K., Roberson‐Nay, R., & Hettema, J. M. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32459 · Cited by 36 · see citing works
Nascimento, P. P., Bossolani-Martins, A. L., Rosan, D. B. A., de Mattos, L. C., Brandão, C. C., & Fett‐Conte, A. C. (2016) · Genetics and Molecular Research · doi:10.4238/gmr.15017422 · Cited by 34 · see citing works
George-Hyslop, F. S., Haneklaus, M., Kivisild, T., & Livesey, F. J. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.03.014 · Cited by 33 · see citing works
A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism
Poot, M. (2014) · Molecular Syndromology · doi:10.1159/000362891 · Cited by 33 · see citing works
Modeling of Autism Genetic Variations in Mice: Focusing on Synaptic and Microcircuit Dysfunctions
Qiu, S., Aldinger, K. A., & Levitt, P. R. (2012) · Developmental Neuroscience · doi:10.1159/000336644 · Cited by 31 · see citing works
Dissection of genetic associations with language-related traits in population-based cohorts
Paracchini, S. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9091-6 · Cited by 29 · see citing works
Reiff, M., Bugos, E., Giarelli, E., Bernhardt, B. A., Spinner, N. B., Sankar, P. L., & Mulchandani, S. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3067-7 · Cited by 30 · see citing works
Anxiety levels in children with selective mutism and social anxiety disorder
Schwenck, C., Gensthaler, A., & Vogel, F. (2019) · Current Psychology · doi:10.1007/s12144-019-00546-w · Cited by 27 · see citing works
Su, X., Li, W., Lv, L., Li, X., Yang, J., Luo, X., & Liu, J. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.740134 · Cited by 25 · see citing works
Social Phobia and Selective Mutism
Keeton, C. P., & Budinger, M. C. (2012) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2012.05.009 · Cited by 25 · see citing works
Tsang, T., Gillespie‐Lynch, K., & Hutman, T. (2016) · Autism Research and Treatment · doi:10.1155/2016/6309189 · Cited by 25 · see citing works
Imaging genetics in neurodevelopmental psychopathology
Klein, M., van Donkelaar, M. M. J., Verhoef, E., & Franke, B. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32542 · Cited by 25 · see citing works
(2022) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9780890425787.x05_anxiety_disorders · Cited by 24 · see citing works
Distinguishing selective mutism and social anxiety in children: a multi-method study
Poole, K. L., Cunningham, C. E., McHolm, A. E., & Schmidt, L. A. (2020) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-020-01588-3 · Cited by 26 · see citing works
Koeda, M., Watanabe, A., Tsuda, K., Matsumoto, M., Ikeda, Y., Kim, W., Tateno, A., Naing, B. T., Karibe, H., Shimada, T., et al. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00087 · Cited by 20 · see citing works
Genetics of Pediatric Anxiety Disorders
Sakolsky, D. J., McCracken, J. T., & Nurmi, E. L. (2012) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2012.05.010 · Cited by 18 · see citing works
Werling, A. M., Bobrowski, E., Taurines, R., Gundelfinger, R., Romanos, M., Grünblatt, E., & Walitza, S. (2015) · Journal of Neural Transmission · doi:10.1007/s00702-015-1458-5 · Cited by 19 · see citing works
Muris, P., Monait, N., Weijsters, L., & Ollendick, T. H. (2021) · Frontiers in Psychology · doi:10.3389/fpsyg.2021.669907 · Cited by 18 · see citing works
Bouwkamp, C. G., Kievit, A. J. A., Markx, S., Friedman, J. I., van Zutven, L. J. C. M., van Minkelen, R., Vrijenhoek, T., Xu, B., Sterrenburg-v.d.Nieuwegiessen, I. M., Veltman, J. A., et al. (2017) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2017.16080946 · Cited by 17 · see citing works
Rozenek, E. B., Orlof, W., Nowicka, Z., Wilczyńska, K., & Waszkiewicz, N. (2019) · Psychiatria Polska · doi:10.12740/pp/onlinefirst/108503 · Cited by 17 · see citing works
Rogoll, J., Petzold, M. B., & Ströhle, A. (2018) · Der Nervenarzt · doi:10.1007/s00115-018-0504-6 · Cited by 17 · see citing works
Shiota, Y., Hirosawa, T., Yoshimura, Y., Tanaka, S., Hasegawa, C., Iwasaki, S., An, K., Soma, D., Sano, M., Yokoyama, S., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0260548 · Cited by 16 · see citing works
Genetics of social anxiety disorder: a systematic review
Baba, A., Kloiber, S. M., & Zai, G. C. (2021) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000310 · Cited by 13 · see citing works
Ties of silence - Family lived experience of selective mutism in identical twins
Albrigtsen, V., Eskeland, B., & Mæhle, M. O. (2015) · Clinical Child Psychology and Psychiatry · doi:10.1177/1359104515591225 · Cited by 10 · see citing works
Bai, T., Zhang, L., Xie, X., Xiao, G., Huang, W., Li, D., Zu, M., Wei, L., Zuo, X., Gong-Jun, J. I., et al. (2019) · Social Cognitive and Affective Neuroscience · doi:10.1093/scan/nsaa008 · Cited by 9 · see citing works
Li, D., Zhang, L., Bai, T., Huang, W., Ji, G., Yang, T., Zhang, Y., Tian, Y., Qiu, B., & Wang, K. (2021) · Behavioural Brain Research · doi:10.1016/j.bbr.2021.113319 · Cited by 8 · see citing works
Genetic Factors in Social Anxiety Disorder
Stein, M. B., & Gelernter, J. E. (2014) · Wiley eBooks · doi:10.1002/9781118653920.ch3 · Cited by 7 · see citing works
Self-citationThe erosion of phenotypic specificity in psychiatric genetics: emerging lessons from CNTNAP2
State, M. W. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.03.021 · Cited by 6 · see citing works
Kristensen, H., Oerbeck, B., & Manassis, K. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813004-9.00011-6 · Cited by 6 · see citing works
Cristina, A., Lúiza, A., & Pereira-Nascimento, P. (2013) · InTech eBooks · doi:10.5772/53106 · Cited by 5 · see citing works
Keeton, C. P. (2013) · Springer eBooks · doi:10.1007/978-1-4614-6599-7_11 · Cited by 5 · see citing works
Breaking with the Criteria; Selective Mutism and its Forbidden Connection with Autism
Helgesen, I., & Nordahl‐Hansen, A. (2026) · Research on Child and Adolescent Psychopathology · doi:10.1007/s10802-025-01414-x · Cited by 4 · see citing works
Arutiunian, V., Santhosh, M., Neuhaus, E., Sullivan, C. A. W., Bernier, R., Bookheimer, S. Y., Dapretto, M., Geschwind, D. H., Jack, A., McPartland, J. C., et al. (2024) · Autism Research · doi:10.1002/aur.3193 · Cited by 4 · see citing works
Taugher, R. J., Berns, A., Jones, M., Townsend, A., Eagen, A. K., Ferri, S. L., Langbehn, D. R., & Janouschek, H. (2025) · Autism Research · doi:10.1002/aur.70034 · Cited by 3 · see citing works
Family Relationships in Selective Mutism—A Comparison Group Study of Children and Adolescents
Melfsen, S., Jans, T., Romanos, M., & Walitza, S. (2022) · Children · doi:10.3390/children9111634 · Cited by 3 · see citing works
Mehta, S., & Geschwind, D. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00115-4 · Cited by 3 · see citing works
Hipolito, G., & Johnson, M. (2021) · Springer eBooks · doi:10.1007/978-3-030-74985-9_10 · Cited by 2 · see citing works
Too Much Kin in the Game? The Intimate Reciprocities Available in Not Speaking
Dower, R. C. (2022) · Cultural and Pedagogical Inquiry · doi:10.18733/cpi29656 · Cited by 2 · see citing works
Paschou, P., Hoekstra, P. J., & Heiman, G. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405195-9.00045-7 · Cited by 2 · see citing works
Anxiety Disorders in Young Children
Monga, S., & Benoit, D. (2018) · Springer eBooks · doi:10.1007/978-3-030-04939-3_1 · Cited by 2 · see citing works
Measurement of speech in individuals with selective mutism: A systematic review
Toma, Y., & Matsuda, S. (2022) · F1000Research · doi:10.12688/f1000research.113302.2 · Cited by 1 · see citing works
Peñagarikano, O. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00012-1 · Cited by 1 · see citing works
Enikeeva, R. F., Kazantseva, A. V., Davydova, Y. D., & Хуснутдинова, Э. К. (2020) · RESEARCH RESULTS IN BIOMEDICINE · doi:10.18413/2658-6533-2020-6-1-0-3 · Cited by 1 · see citing works
Effects of the FRIENDS for Life Program on Anxiety, School Functioning, and Social Functioning
Kavanagh, C. (2014) · uO Research (University of Ottawa) · doi:10.20381/ruor-3805 · Cited by 1 · see citing works
DeSoto, M. C. (2023) · Nutrients · doi:10.3390/nu15040960 · Cited by 1 · see citing works
Ghamari, R., Tahmaseb, M., Alizadeh, F., Mohammadzadeh, A., Tavakolian, N., Sarabi‐Jamab, A., & Tehrani‐Doost, M. (2023) · Research Square · doi:10.21203/rs.3.rs-3034106/v1 · Cited by 1 · see citing works
Veerhoek, E. S. (2011) · Utrecht University Repository (Utrecht University)
Chapter 12 GABA system dysfunction in autism and related disorders
Horder, J. (2016) · CRC Press eBooks · doi:10.1201/9781315371375-13
Selective Mutism Interventions: What Works?
Dieu, K. (2017) · Journal of Psychiatry and Psychiatric Disorders · doi:10.26502/jppd.2572-519x009
Selektiv mutisme hos barn og unge
Kristensen, H., & Oerbeck, B. (2021) · Tidsskrift for Den norske legeforening · doi:10.4045/tidsskr.21.0354
Kearney, C. A., Gerthoffer, A., Howard, A., & Diliberto, R. (2018) · Cambridge University Press eBooks · doi:10.1017/9781108140416.021
Stein, M. B., & Sareen, J. (2019) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615371501.lr13
Self-citationStein, M. B., & Sareen, J. (2019) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615372980.lr13
Self-citationMeasurement of speech in individuals with selective mutism: A systematic review
Toma, Y., & Matsuda, S. (2022) · F1000Research · doi:10.12688/f1000research.113302.1 · Cited by 1 · see citing works
Demographic and clinical profiles of preschool children with selective mutism in Singapore
Zhang, Y., Mascarenhas, S. S., Tan, S. K., & Daniel, L. M. (2023) · Singapore Medical Journal · doi:10.4103/singaporemedj.smj-2020-525
Measurement of speech in individuals with selective mutism: A systematic review
Toma, Y., & Matsuda, S. (2023) · F1000Research · doi:10.12688/f1000research.113302.4
Measurement of speech in individuals with selective mutism: A systematic review
Toma, Y., & Matsuda, S. (2023) · F1000Research · doi:10.12688/f1000research.113302.3
Ghamari, R., Tahmaseb, M., Alizadeh, F., Mohammadzadeh, A., Tavakolian, N., Sarabi‐Jamab, A., & Tehrani‐Doost, M. (2023) · Research Square · doi:10.21203/rs.3.rs-3508071/v1
Shah, S. W. A., Sher, M., Khan, F. A., Zahoor, M., Esa, M., Ullah, R., Zahoor, S., Aman, A., Rahim, A., Afridi, H. H., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3909385/v1
Challenges Faced by Parents of Children With Selective Mutism in Accessing Medical Care Services
Yamanaka, T., Yuruki, K., Okano, T., & Inoue, M. (2024) · Cureus · doi:10.7759/cureus.71304
Nicht nur schüchtern: Was Pädiater über Selektiven Mutimus wissen sollten
Gensthaler, A., & Röse, C. (2025) · Kinder- und Jugendmedizin · doi:10.1055/a-2471-1648
Selective Mutism in Adults: A Case Study
Sayer, M. C., & Hocaoğlu, Ç. (2024) · Neuropsychiatric Investigation · doi:10.5152/neuropsychiatricinvest.2023.23015
What is selective mutism? And is it a lifelong condition?
Hipolito, G. (2024) · doi:10.64628/ab.eeufaug7s
Selective Mutism: A Comprehensive Review
Furr, J. M. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-29009-1.00147-5
- Authors
- Stein, M. B., Yang, B.-Z., Chavira, D. A., Hitchcock, C. A., Sung, S. C., Shipon-Blum, E., & Gelernter, J.
- Affiliations
- University of California San Diego (US)
- Yale University (US)
- Corresponding author
- Stein, Murray B.
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2011-05
- Volume
- 69
- Issue
- 9
- Pages
- 825-831
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC3079072
- OpenAlex
- W2047534565
- Cited by
- 89
- References
- 73
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 5 · 2023: 7 · 2022: 5 · 2021: 9 · 2020: 2 · 2019: 7 · 2018: 4 · 2017: 5 · 2016: 5 · 2015: 10 · 2014: 6 · 2013: 7 · 2012: 6
- FWCI
- 8.32
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (MH64122, K01 MH072952)
- National Institute on Drug Abuse (K01 DA024758)
- Veterans Affairs Merit Grant
- Veterans Affairs Connecticut Reserve Educational Assistance Program
- Mental Illness Research, Education, and Clinical Center
- GlaxoSmithKline
- Topics
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- selective mutism, social anxiety, CNTNAP2, genetic susceptibility, single nucleotide polymorphisms, autism spectrum disorder, specific language impairment, shared etiology, haplotype association
- MeSH terms
- Adolescent, Alleles, Child, Child, Preschool, Female, Genotype, Haplotypes, Humans, Male, Membrane Proteins, Mutism, Nerve Tissue Proteins, Phobic Disorders, Psychiatric Status Rating Scales, Surveys and Questionnaires, Genetic Variation, Linear Models, Odds Ratio, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genetic Association Studies, Self Report
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
