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Article

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

American journal of medical genetics. Part A - 1 Jul 2016

Aggarwal Shagun, Bhowmik Aneek Das, Ramprasad Vedam L, Murugan Sakthivel, Dalal Ashwin

Abstract excerpt

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...

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Identifiers

PMID: 27108999
DOI: 10.1002/ajmg.a.37654

Genes

HERC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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