期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 94, 期 5, 页码 784-789出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2014.04.006
关键词
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资金
- NIH [NHGRI 5 U54 HG003273, NHGRI RO1NS058529, U54HG006542, NHGRI 5 U01 HG006485]
- National Institute of Neurological Disorders and Stroke [NS076547]
- Simons Foundation
- National Health and Medical Research Council of Australia [607431]
Clinical 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 dysmoiphism 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.
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