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Am J Med Genet A. 2016 Jul;170(7):1868-73. doi: 10.1002/ajmg.a.37654. Epub 2016 Apr 25.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

Author information

1
Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
2
Division of Diagnostics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
3
MedGenome Labs, Bangalore, India.

Abstract

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.

KEYWORDS:

HERC1; exome sequencing; intellectual disability; macrocephaly

PMID:
27108999
DOI:
10.1002/ajmg.a.37654
[Indexed for MEDLINE]

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