22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
Open accessAbstract
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization of 13 patients. Developmental delay and speech abnormalities were common to all and comparable in frequency and severity to previously reported cases. Array-based comparative genomic hybridization showed the deletions to vary from 95 kb to 8.5 Mb. We also carried out high-resolution 244K array comparative genomic hybridization in 10 of 13 patients, that defined the proximal and distal breakpoints of each deletion and helped determine the size, extent, and gene content within the deletion. Two patients had a smaller 95 kb terminal deletion with breakpoints within the SHANK3 gene while three other patients had a similar 5.5 Mb deletion implying the recurrent nature of these deletions. The two largest deletions were found in patients with ring chromosome 22. No correlation could be made with deletion size and phenotype although complete/partial SHANK3 was deleted in all patients. There are very few reports on array comparative genomic hybridization analysis on patients with the 22q13.3 deletion syndrome, and we aim to accurately characterize these patients both clinically and at the molecular level, to pave the way for further genotype-phenotype correlations. (c) 2010 Wiley-Liss, Inc.
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?
Point mutations and microdeletions of SHANK3 have been identified in idiopathic ASD cases.
“Subsequently, point mutations and microdeletions of SHANK3 have been identified in idiopathic ASD cases (Boccuto et al., 2012; Dhar et al., 2010; Durand et al., 2007; Gauthier et al., 2010; Gong et al., 2012; Marshall et al., 2008; Moessner et al., 2007; Waga et al., 2011).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Dhar et al., 2010
In other cases with almost identical small microdeletions including SHANK3, neurobehavioral phenotypes were quite variable.
“Similarly, in other cases with almost identical small microdeletions (<100 kb) including SHANK3, neurobehavioral phenotypes were quite variable (Boccuto et al., 2013; Bonaglia et al., 2011; Dhar et al., 2010).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Dhar et al., 2010
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
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851 · see citing works
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works
Regulation of Dendritic Spine Morphology and Synaptic Function by Shank and Homer
Sala, C., Piëch, V., Wilson, N. R., Passafaro, M., Liu, G., & Sheng, M. (2001) · Neuron · doi:10.1016/s0896-6273(01)00339-7 · Cited by 716 · see citing works
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681 · see citing works
The Shank family of scaffold proteins
Sheng, M., & Kim, E. (2000) · Journal of Cell Science · doi:10.1242/jcs.113.11.1851 · Cited by 578 · see citing works
Management of Genetic Syndromes
(2005) · Wiley eBooks · doi:10.1002/0471695998 · Cited by 392 · see citing works
Wilson, H. L., Wong, A. C. C., Shaw, S. R., Tse, W.-Y., Stapleton, G. A., Phelan, M. C., Hu, S., Marshall, J., & McDermid, H. E. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.575 · Cited by 377 · see citing works
Bonaglia, M. C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., & Zuffardi, O. (2001) · The American Journal of Human Genetics · doi:10.1086/321293 · Cited by 309 · see citing works
Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043166 · Cited by 305 · see citing works
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
Lu, X., Shaw, C. A., Patel, A., Li, J., Cooper, M. L., Wells, W. R., Sullivan, C. M., Sahoo, T., Yatsenko, S. A., Bacino, C. A., et al. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000327 · Cited by 248 · see citing works
Self-citationBonaglia, M. C., Giorda, R., Mani, E., Aceti, G., Anderlid, B.-M., Baroncini, A., Pramparo, T., & Zuffardi, O. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.038604 · Cited by 211 · see citing works
Luciani, J. J., de Mas, P., Depetris, D., Mignon-Ravix, C., Bottani, A., Prieur, M., Jonveaux, P., Philippe, A., Bourrouillou, G., de Martinville, B., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.9.690 · Cited by 170 · see citing works
Ching, T.-T., Maunakea, A. K., Jun, P., Hong, C., Zardo, G., Pinkel, D., Albertson, D. G., Fridlyand, J., Mao, J.-H., Shchors, K., et al. (2005) · Nature Genetics · doi:10.1038/ng1563 · Cited by 159 · see citing works
Shao, L., Shaw, C. A., Lu, X., Sahoo, T., Bacino, C. A., Lalani, S. R., Stankiewicz, P., Yatsenko, S. A., Li, Y., Neill, S. E., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32399 · Cited by 133 · see citing works
Self-citationNeurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood
Philippe, A., Boddaert, N., Vaivre-Douret, L., Robel, L., Danon-Boileau, L., Malan, V., de Blois, M.-C., Heron, D., Colleaux, L., Golse, B., et al. (2008) · Pediatrics · doi:10.1542/peds.2007-2584 · Cited by 108 · see citing works
Molecular and phenotypic characterization of ring chromosome 22
Jeffries, A. R., Curran, S. R., Elmslie, F., Sharma, A., Wenger, S. L., Hummel, M., & Powell, J. F. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30780 · Cited by 104 · see citing works
Cusmano‐Ozog, K. P., Manning, M. A., & Hoyme, H. E. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30155 · Cited by 96 · see citing works
FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid, B., Schoumans, J., Annerén, G., Tapia‐Páez, I., Dumanski, J. P., Blennow, E., & Nordenskjöld, M. (2002) · Human Genetics · doi:10.1007/s00439-002-0713-7 · Cited by 93 · see citing works
Ou, Z., Kang, S.-H. L., Shaw, C. A., Carmack, C. E., White, L. D., Patel, A., Beaudet, A. L., Cheung, S. W., & Chinault, A. C. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b4420 · Cited by 90 · see citing works
Self-citationWilson, H. L., Crolla, J. A., Walker, D., Artifoni, L., Dallapiccola, B., Takano, T., Vasudevan, P., Huang, S., Maloney, V., Yobb, T., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.107 · Cited by 85 · see citing works
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
Doheny, K. F., McDermid, H. E., Harum, K. H., Thomas, G. H., & Raymond, G. V. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.8.640 · Cited by 60 · see citing works
Probst, F. J., Roeder, E. R., Enciso, V. B., Ou, Z., Cooper, M. L., Eng, P. A., Li, J., Gu, Y., Stratton, R. F., Chinault, A. C., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31781 · Cited by 60 · see citing works
Self-citationPhenotypic correlations in patients with ring chromosome 22
Hunter, A. G. W., Ray, M., Wang, H. S., et al. (1977) · Clinical Genetics · doi:10.1111/j.1399-0004.1977.tb00933.x · Cited by 48 · see citing works
Koolen, D. A., Reardon, W., Rosser, E. M., Lacombe, D., Hurst, J. A., Law, C., Bongers, E. M. H. F., van Ravenswaaij‐Arts, C. M. A., Leisink, M. A. R., van Kessel, A. G., et al. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201456 · Cited by 48 · see citing works
Synapse signalling complexes and networks: machines underlying cognition
Grant, S. G. N. (2003) · BioEssays · doi:10.1002/bies.10381 · Cited by 47 · see citing works
Deletion 22 q 13 Syndrome ( P helan‐ M c D ermid Syndrome)
Phelan, M. C., Stapleton, G. A., & Rogers, R. C. (2005) · doi:10.1002/0471695998.mgs016 · Cited by 8 · see citing works
Plaja, A., Mir�, R., Fuster, C., Perez, C., Sarret, E., Esteve, P., & Egozcue, J. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010615)101:2 · Cited by 3 · see citing works
Jonnal (2000) · doi:10.1002/1096-8628(20001204)96:6
Flagged first, then by citations
Cited by
Sorted by citations
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954 · see citing works
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797 · see citing works
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Wang, X., McCoy, P. A., Rodriguiz, R. M., Pan, Y., Je, H. S., Roberts, A. C., Kim, C. J., Berrios, J., Colvin, J. S., Bousquet-Moore, D., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr212 · Cited by 537 · see citing works
Self-citationModeling Autism by SHANK Gene Mutations in Mice
Jiang, Y.-H., & Ehlers, M. D. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.016 · Cited by 488 · see citing works
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
Phelan, K., & McDermid, H. E. (2011) · Molecular Syndromology · doi:10.1159/000334260 · Cited by 460 · see citing works
Yang, M., Bozdagi, O., Scattoni, M. L., Wöhr, M., Roullet, F. I., Katz, A. M., Abrams, D. N., Kalikhman, D., Simon, H., Woldeyohannes, L., et al. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.6107-11.2012 · Cited by 369 · see citing works
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229 · see citing works
Steinman, K. J., Spence, S. J., Ramocki, M. B., Proud, M. B., Kessler, S. K., Marco, E. J., Green Snyder, L., D'Angelo, D., Chen, Q., Chung, W. K., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37820 · Cited by 218 · see citing works
Protein interactome reveals converging molecular pathways among autism disorders
Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002166 · Cited by 226 · see citing works
Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002173 · Cited by 224 · see citing works
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders
Zhu, L., Wang, X., Li, X.-L., Towers, A., Cao, X., Wang, P., Bowman, R., Yang, H., Goldstein, J., Li, Y.-J., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt547 · Cited by 147 · see citing works
Santini, E., & Klann, E. (2014) · Science Signaling · doi:10.1126/scisignal.2005832 · Cited by 118 · see citing works
Wöhr, M. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.03.021 · Cited by 107 · see citing works
Verhoeven, W. M. A., Egger, J., Willemsen, Leijer, D., & Kleefstra (2012) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s30506 · Cited by 57 · see citing works
Egger, J. I. M., Zwanenburg, R. J., van Ravenswaaij‐Arts, C. M. A., Kleefstra, T., & Verhoeven, W. M. A. (2016) · Genes, Brain and Behavior · doi:10.1111/gbb.12285 · Cited by 45 · see citing works
First-degree relatives of young children with autism spectrum disorders: Some gender aspects
Eriksson, M. A., Westerlund, J., Anderlid, B. M., Gillberg, C., & Fernell, E. (2012) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2012.03.025 · Cited by 43 · see citing works
- Authors
- Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., Grebe, T. A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips, J. A., Beaudet, A. L., Stankiewicz, P., Patel, A., Cheung, S. W., & Sahoo, T.
- Affiliations
- Baylor College of Medicine (US)
- Vanderbilt University (US)
- University of North Carolina at Chapel Hill (US)
- Baylor Scott & White Medical Center - Temple (US)
- St. Joseph's Hospital and Medical Center (US)
- Boston Children's Hospital (US)
- Texas Scottish Rite Hospital for Children (US)
- Corresponding author
- Cheung, S.W.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-02-22
- Volume
- 152A
- Issue
- 3
- Pages
- 573-581
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC3119894
- OpenAlex
- W2123251139
- Cited by
- 138
- References
- 28
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 5 · 2022: 4 · 2021: 8 · 2020: 9 · 2019: 8 · 2018: 8 · 2017: 7 · 2016: 12 · 2015: 6 · 2014: 13 · 2013: 16 · 2012: 19
- FWCI
- 8.82
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD037283)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- Phelan-McDermid syndrome, SHANK3, ring chromosome 22, developmental delay, intellectual disability, speech abnormalities, genotype-phenotype correlation, breakpoint mapping, recurrent deletions
- MeSH terms
- Abnormalities, Multiple, Adolescent, Autistic Disorder, Carrier Proteins, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Humans, Language Development Disorders, Male, Nerve Tissue Proteins, Phenotype, Syndrome, Comparative Genomic Hybridization, Young Adult, Genetic Association Studies
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
