期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 170, 期 7, 页码 1868-1873出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37654
关键词
HERC1; exome sequencing; intellectual disability; macrocephaly
资金
- Department of Biotechnology [BT/PR3193/MED/12/521/2011]
We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed a homozygous splice site HERC1 mutation in both probands. Functional analysis revealed use of an alternate splice site resulting in formation of a downstream stop codon and nonsense mediated decay. In the light of recent reports of HERC1 mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of HERC1 disruption. (C) 2016 Wiley Periodicals, Inc.
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