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Article

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

European journal of human genetics : EJHG - 1 Mar 2016

Nguyen Lam Son, Schneider Taiane, Rio Marlène, Moutton Sébastien, Siquier-Pernet Karine, Verny Florine, Boddaert Nathalie, Desguerre Isabelle, Munich Arnold, Rosa José Luis, Cormier-Daire Valérie, Colleaux Laurence

Abstract excerpt

Megalencephaly is a congenital condition characterized by severe overdeveloped brain size. This phenotype is often caused by mutations affecting the RTK/PI3K/mTOR (receptor tyrosine kinase-phosphatidylinositol-3-kinase-AKT) signaling and its downstream pathway of mammalian target of rapamycin (mTOR). Here, using a whole-exome sequencing in a Moroccan consanguineous family, we show that a novel autosomal-recessive...

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Identifiers

PMID: 26153217
DOI: 10.1038/ejhg.2015.140
PMCID: PMC4755376

Genes

HERC1

Provenance

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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