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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea.

TitleDe Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea.
Publication TypeJournal Article
Year of Publication2014
AuthorsXia, Fan, Bainbridge Matthew N., Tan Tiong Yang, Wangler Michael F., Scheuerle Angela E., Zackai Elaine H., Harr Margaret H., Sutton Reid V., Nalam Roopa L., Zhu Wenmiao, Nash Margot, Ryan Monique M., Yaplito-Lee Joy, Hunter Jill V., Deardorff Matthew A., Penney Samantha J., Beaudet Arthur L., Plon Sharon E., Boerwinkle Eric A., Lupski James R., Eng Christine M., Muzny Donna M., Yang Yaping, and Gibbs Richard A.
JournalAmerican journal of human genetics
Volume94
Issue5
Pagination784-9
Date Published2014 May 1
ISSN1537-6605
AbstractClinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 "known" disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome.
DOI10.1016/j.ajhg.2014.04.006
Alternate JournalAm. J. Hum. Genet.


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