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

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

  • Am J Med Genet A. 2016 Jul;170(7):1868-73. doi: 10.1002/ajmg.a.37654.
Shagun Aggarwal 1 2,  Aneek Das Bhowmik 2,  Vedam L Ramprasad 3,  Sakthivel Murugan 3,  Ashwin Dalal 2
Affiliations

Affiliations

  • 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.
PMID: 27108999 DOI: 10.1002/ajmg.a.37654
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. © 2016 Wiley Periodicals, Inc.

Keywords

HERC1; exome sequencing; intellectual disability; macrocephaly.

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