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Aggarwal, Shagun and Das Bhowmik, A. and Ramprasad, V.L. and Murugan, S. and Dalal, Ashwin (2016) A splice site mutation inHERC1leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. American Journal of Medical Genetics Part A, 170 (7). pp. 1868-1873. ISSN 1552-4825

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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. © 2016 Wiley Periodicals, Inc.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 28 Apr 2016 08:42
Last Modified: 23 Jun 2016 09:45
URI: http://cdfd.sciencecentral.in/id/eprint/716

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