期刊
HUMAN MUTATION
卷 36, 期 10, 页码 1015-1019出版社
WILEY-BLACKWELL
DOI: 10.1002/humu.22843
关键词
DPH1; Sensenbrenner; intellectual disability; rare disorders; Matchmaker Exchange
资金
- March of Dimes Foundation (Basil O'Connor Starter Scholar Research Award) [5-FY09-529]
- Alberta Children's Hospital Foundation
- National Institute of Health [R01 HL085197]
- CIHR Training Program in Genetics, Child Development, and Health at the University of Calgary
Recently, Alazami et al. (2015) identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. Here, we report a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with a phenotype initially reminiscent of Sensenbrenner syndrome. This postpublication match validates DPH1 as a gene underlying syndromic intellectual disability with short stature and craniofacial and ectodermal anomalies, reminiscent of, but distinct from, 3C and Sensenbrenner syndromes. This validation took several years after the independent discoveries due to the absence of effective methods for sharing both candidate phenotype and genotype data between investigators. Sharing of data via Web-based anonymous data exchange servers will play an increasingly important role toward more efficient identification of the molecular basis for rare Mendelian disorders. (C) 2015 Wiley Periodicals, Inc.
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