Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample
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Two functionally related genes, FOXP2 and CNTNAP2, influence language abilities in families with rare syndromic and common nonsyndromic forms of impaired language, respectively. We investigated whether these genes are associated with component phenotypes of dyslexia and measures of sequential motor ability. Quantitative transmission disequilibrium testing (QTDT) and linear association modeling were used to evaluate associations with measures of phonological memory (nonword repetition, NWR), expressive language (sentence repetition), reading (real word reading efficiency, RWRE; word attack, WATT), and timed sequential motor activities (rapid alternating place of articulation, RAPA; finger succession in the dominant hand, FS-D) in 188 family trios with a child with dyslexia. Consistent with a prior study of language impairment, QTDT in dyslexia showed evidence of CNTNAP2 single nucleotide polymorphism (SNP) association with NWR. For FOXP2, we provide the first evidence for SNP association with component phenotypes of dyslexia, specifically NWR and RWRE but not WATT. In addition, FOXP2 SNP associations with both RAPA and FS-D were observed. Our results confirm the role of CNTNAP2 in NWR in a dyslexia sample and motivate new questions about the effects of FOXP2 in neurodevelopmental disorders.
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The same allele that increases risk for language delay in ASD increases risk for specific language impairment and modifies language ability in the general population.
“Several groups have demonstrated that this is indeed the case with respect to CNTNAP2 [60, 61, 63], as the same allele that increases risk for language delay in ASD, increases risk for specific language impairment (SLI) and modifies language ability in the general population.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [63]
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Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323 · see citing works
Prevalence of Specific Language Impairment in Kindergarten Children
Tomblin, J. B., Records, N. L., Buckwalter, P., Zhang, X., Smith, E., & O’Brien, M. (1997) · Journal of Speech, Language, and Hearing Research · doi:10.1044/jslhr.4006.1245 · Cited by 2,288 · see citing works
Wechsler Adult Intelligence Scale--Fourth Edition
Wechsler, D. (2012) · PsycTESTS Dataset · doi:10.1037/t15169-000 · Cited by 2,232 · see citing works
A forkhead-domain gene is mutated in a severe speech and language disorder
Lai, C. S. L., Fisher, S. E., Hurst, J. A., Vargha‐Khadem, F., & Monaco, A. P. (2001) · Nature · doi:10.1038/35097076 · Cited by 2,053 · see citing works
Lyon, G. R., Shaywitz, S. E., & Shaywitz, B. A. (2003) · Annals of Dyslexia · doi:10.1007/s11881-003-0001-9 · Cited by 1,914 · see citing works
Theories of developmental dyslexia: insights from a multiple case study of dyslexic adults
Ramus, F. (2003) · Brain · doi:10.1093/brain/awg076 · Cited by 1,526 · see citing works
Comprehensive Test of Phonological Processing
Mitchell, J.-J. (2001) · Assessment for Effective Intervention · doi:10.1177/073724770102600305 · Cited by 1,307 · see citing works
Test of Word Reading Efficiency
Dumont, R., & Willis, J. O. (2008) · Encyclopedia of Special Education · doi:10.1002/9780470373699.speced2080 · Cited by 1,148 · see citing works
A Longitudinal Investigation of Reading Outcomes in Children With Language Impairments
Catts, H. W., Fey, M. E., Tomblin, J. B., & Zhang, X. (2002) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2002/093 · Cited by 1,057 · see citing works
Woodcock Reading Mastery Tests–Revised
Greenberg, D. (2014) · Encyclopedia of Special Education · doi:10.1002/9781118660584.ese2562 · Cited by 934 · see citing works
Psycholinguistic markers for specific language impairment (SLI)
Conti‐Ramsden, G., Botting, N., & Faragher, B. (2001) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00770 · Cited by 879 · cited 1× · see citing works
“SR, also referred to as sentence imitation, is considered a sensitive measure of expressive language ability and difficulty with this task is one of the psycholinguistic markers of language impairment (Conti-Ramsden et al. 2001).”
BackgroundReliability and validity of a computerized neurocognitive test battery, CNS vital signs
GUALTIERI, C., & JOHNSON, L. (2006) · Archives of Clinical Neuropsychology · doi:10.1016/j.acn.2006.05.007 · Cited by 873 · see citing works
Linkage, 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
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
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
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
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
Relations Among Speech, Language, and Reading Disorders
Pennington, B. F., & Bishop, D. (2008) · Annual Review of Psychology · doi:10.1146/annurev.psych.60.110707.163548 · Cited by 523 · see citing works
Comprehensive Test of Phonological Processing
Dumont, R., Willis, J. O., Viezel, K., & Zibulsky, J. (2014) · Encyclopedia of Special Education · doi:10.1002/9781118660584.ese0544 · Cited by 493 · see citing works
Haesler, S., Rochefort, C., Georgi, B., Licznerski, P., Osten, P., & Scharff, C. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050321 · Cited by 433 · see citing works
Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits
MacDermot, K. D., Bonora, E., Sykes, N., Coupe, A., Lai, C. S. L., Vernes, S. C., Vargha‐Khadem, F., McKenzie, F., Smith, R. L., Monaco, A. P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/430841 · Cited by 411 · see citing works
PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data
Wigginton, J. E., & Abecasis, G. R. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti529 · Cited by 408 · see citing works
Writing problems in developmental dyslexia: Under-recognized and under-treated
Berninger, V. W., Nielsen, K. H., Abbott, R. D., Wijsman, E., & Raskind, W. (2008) · Journal of School Psychology · doi:10.1016/j.jsp.2006.11.008 · Cited by 356 · see citing works
Self-citationTomblin, J. B., Zhang, X., Buckwalter, P. R., et al. (2000) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00632 · Cited by 348 · see citing works
Toward an Understanding of Developmental Language and Reading Disorders
Kamhi, A. G., & Catts, H. W. (1986) · Journal of Speech and Hearing Disorders · doi:10.1044/jshd.5104.337 · Cited by 312 · see citing works
Pedigree tests of transmission disequilibrium
Abecasis, G. R., Cookson, W., & Cardon, L. R. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200494 · Cited by 294 · see citing works
Groszer, M., Keays, D. A., Deacon, R. M. J., de Bono, J. P., Prasad-Mulcare, S., Gaub, S., Baum, M. G., French, C. A., Nicod, J., Coventry, J. A., et al. (2008) · Current Biology · doi:10.1016/j.cub.2008.01.060 · Cited by 281 · see citing works
Lifespan trajectory of myelin integrity and maximum motor speed
Bartzokis, G., Lu, P. H., Tingus, K., Mendez, M. F., Richard, A. G., Peters, D. G., Oluwadara, B., Barrall, K. A., Finn, J. P., Villablanca, P. J., et al. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2008.08.015 · Cited by 274 · see citing works
Development of Speed in Repetitive and Successive Finger‐movements in Normal Children
DENCKLA, M. B. (1973) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1973.tb05174.x · Cited by 259 · see citing works
FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment
Newbury, D. F., Bonora, E., Lamb, J. A., Fisher, S. E., Lai, C. S. L., Baird, G., Jannoun, L., Slonims, V., Stott, C., Merricks, M. J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339931 · Cited by 218 · see citing works
Time-by-Count Measurement of Diadochokinetic Syllable Rate
Fletcher, S. G. (1972) · Journal of Speech and Hearing Research · doi:10.1044/jshr.1504.763 · Cited by 216 · see citing works
Converging methods for understanding reading and dyslexia
Bowers, J. S. (2000) · Trends in Cognitive Sciences · doi:10.1016/s1364-6613(00)01551-5 · Cited by 164 · see citing works
Berninger, V. W., & Rutberg, J. E. (1992) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1992.tb14993.x · Cited by 164 · see citing works
Self-citationBilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia
Pagnamenta, E., Salmond, C. H., Watkins, K. E., Vargha‐Khadem, F., & Gadian, D. G. (2003) · Human Brain Mapping · doi:10.1002/hbm.10093 · Cited by 162 · see citing works
Berninger, V. W., Abbott, R. D., Thomson, J., Wagner, R., Swanson, H. L., Wijsman, E. M., & Raskind, W. H. (2006) · Scientific Studies of Reading · doi:10.1207/s1532799xssr1002_3 · Cited by 153 · see citing works
Self-citationBerninger, V. W., Raskind, W. H., Richards, T. L., Abbott, R., & Stock, P. (2008) · Developmental Neuropsychology · doi:10.1080/87565640802418662 · Cited by 151 · see citing works
Self-citationASSOCIATED MOVEMENTS AS A MEASURE OF DEVELOPMENTAL AGE
Wolff, P. H., Gunnoe, C. E., & Cohen, C. (1983) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1983.tb13786.x · Cited by 149 · see citing works
Language Phenotype for Reading and Writing Disability: A Family Approach
Berninger, V. W., Abbott, R. D., Thomson, J. B., & Raskind, W. H. (2001) · Scientific Studies of Reading · doi:10.1207/s1532799xssr0501_3 · Cited by 141 · see citing works
Self-citationConverging methods for understanding reading and dyslexia
Klein, R. M., & McMullen, P. A. (1999) · Cited by 133 · see citing works
Rice, M. L., Smith, S. D., & Gayán, J. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9031-x · Cited by 122 · see citing works
Sensory processing, reading, IQ, and attention
Hulslander, J., Talcott, J. B., Witton, C., DeFries, J. C., Pennington, B. F., Wadsworth, S. J., Willcutt, E. G., & Olson, R. K. (2004) · Journal of Experimental Child Psychology · doi:10.1016/j.jecp.2004.03.006 · Cited by 115 · see citing works
Genetic influences on language impairment and phonological short-term memory
Newbury, D. F., Bishop, D., & Monaco, A. P. (2005) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2005.09.002 · Cited by 115 · see citing works
Oral Dyspraxia in Inherited Speech and Language Impairment and Acquired Dysphasia
Alcock, K., Passingham, R. E., Watkins, K. E., & Vargha‐Khadem, F. (2000) · Brain and Language · doi:10.1006/brln.2000.2322 · Cited by 108 · see citing works
Exploring dyslexics' phonological deficit I: lexical vs sub‐lexical and input vs output processes
Szenkovits, G., & Ramus, F. (2005) · Dyslexia · doi:10.1002/dys.308 · Cited by 106 · see citing works
Chapman, N. H., Igo, R. P., Thomson, J. B., Matsushita, M. M., Brkanac, Z., Holzman, T., Berninger, V. W., Wijsman, E. M., & Raskind, W. H. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30018 · Cited by 91 · see citing works
Self-citationEvaluation of candidate genes for DYX1 and DYX2 in families with dyslexia
Brkanac, Z., Chapman, N. H., Matsushita, M. M., et al. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30471 · Cited by 88 · see citing works
Self-citationThe Genetic Bases of Speech Sound Disorders: Evidence From Spoken and Written Language
Lewis, B. A., Shriberg, L. D., Freebairn, L. A., Hansen, A. J., Stein, C. M., Taylor, H. G., & Iyengar, S. K. (2006) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2006/093 · Cited by 84 · see citing works
The science of reading and dyslexia
Shaywitz, S. E., & Shaywitz, B. A. (2003) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/s1091-8531(03)00002-8 · Cited by 83 · see citing works
FOXP2: novel exons, splice variants, and CAG repeat length stability
Bruce, H. A., & Margolis, R. L. (2002) · Human Genetics · doi:10.1007/s00439-002-0768-5 · Cited by 75 · see citing works
Raskind, W. H., Igo, R. P., Chapman, N. H., Berninger, V. W., Thomson, J. B., Matsushita, M., Brkanac, Z., Holzman, T., Brown, M., & Wijsman, E. M. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001657 · Cited by 72 · see citing works
Self-citationFamilial Aggregation of Dyslexia Phenotypes
Raskind, W. H., Hsu, L., Berninger, V. W., Thomson, J. B., & Wijsman, E. M. (2000) · Behavior Genetics · doi:10.1023/a:1002700605187 · Cited by 71 · see citing works
Self-citationParental Phenotypes in Family-Based Association Analysis
Purcell, S., Sham, P. C., & Daly, M. J. (2005) · The American Journal of Human Genetics · doi:10.1086/427886 · Cited by 71 · see citing works
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Turner, M. (2021) · Routledge eBooks · doi:10.4324/9781003209225-34 · Cited by 65 · see citing works
Parallel FoxP1 and FoxP2 Expression in Songbird and Human Brain Predicts Functional Interaction
Teramitsu, I., Kudo, L., London, S. E., Geschwind, D., & White, S. A. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.5589-03.2004 · Cited by 64 · see citing works
Neuropsychology and Genetics of Speech, Language, and Literacy Disorders
Peterson, R. L., McGrath, L. M., Smith, S. D., & Pennington, B. F. (2007) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2007.02.009 · Cited by 59 · see citing works
Ewens, W. J., Li, M., & Spielman, R. S. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000180 · Cited by 46 · see citing works
Cognitive and Behavioral Dysfunction in Children With Hypothalamic Hamartoma and Epilepsy
Prigatano, G. P. (2007) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2007.03.004 · Cited by 42 · see citing works
Richards, T. L., Berninger, V. W., Stock, P., Altemeier, L. E., Trivedi, P. A., & Maravilla, K. (2009) · Journal of Clinical and Experimental Neuropsychology · doi:10.1080/13803390902780201 · Cited by 39 · see citing works
Self-citationGenome Scan of a Nonword Repetition Phenotype in Families with Dyslexia: Evidence for Multiple Loci
Brkanac, Z., Chapman, N. H., Igo, R. P., Matsushita, M. M., Nielsen, K. H., Berninger, V. W., Wijsman, E. M., & Raskind, W. H. (2008) · Behavior Genetics · doi:10.1007/s10519-008-9215-2 · Cited by 32 · see citing works
Self-citationMultiple transcription start sites for FOXP2 with varying cellular specificities
Schroeder, D. I., & Myers, R. (2008) · Gene · doi:10.1016/j.gene.2008.01.015 · Cited by 28 · see citing works
Resnick, H. E., Rodríguez, B. L., Havlik, R. J., Ferrucci, L., Foley, D. J., Curb, J. D., & Harris, T. B. (2000) · Genetic Epidemiology · doi:10.1002/1098-2272(200007)19:1 · Cited by 25 · see citing works
Assessment for Reading and Writing Intervention: A Three-Tier Model for Prevention and Remediation
Berninger, V. W., Stage, S. A., Smith, D. R., & Hildebrand, D. K. (2001) · Elsevier eBooks · doi:10.1016/b978-012058570-0/50009-4 · Cited by 20 · see citing works
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Research works printed but not linked: 2
- Garcia N Abbott R Berninger VW Children’s longitudinal growth of orthographic coding and finger sequencing in press
- Thorndike RL Hagen EP Sattler JM Stanford-binet intelligence scale fourth edition Itasca Riverside 1986
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- Authors
- Peter, B., Raskind, W. H., Matsushita, M., Lisowski, M., Vu, T., Berninger, V. W., Wijsman, E. M., & Brkanac, Z.
- Affiliations
- University of Washington (US)
- Corresponding author
- Peter, Beate
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2010-11-09
- Volume
- 3
- Issue
- 1
- Pages
- 39-49
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC3163991
- OpenAlex
- W1989563742
- Cited by
- 117
- References
- 63
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 4 · 2023: 7 · 2022: 5 · 2021: 9 · 2020: 4 · 2019: 4 · 2018: 9 · 2017: 12 · 2016: 10 · 2015: 10 · 2014: 8 · 2013: 19 · 2012: 9
- FWCI
- 19.03
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Deafness and Other Communication Disorders (T32DC000033)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K08HD049342, R01HD054562)
- Topics
- Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Keywords
- CNTNAP2, FOXP2, dyslexia, non-word repetition, phonological memory, motor abilities, word attack, language impairment, single nucleotide polymorphisms, family trios, transmission disequilibrium test, neurodevelopmental disorders
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