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Article

Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.

Metabolic brain disease - 1 Aug 2016

Alkhateeb Asem M, Aburahma Samah K, Habbab Wesal, Thompson I Richard

Abstract excerpt

Intellectual disability is a heterogeneous disease with many genes and mutations influencing the phenotype. Consanguineous families constitute a rich resource for the identification of rare variants causing autosomal recessive disease, due to the effects of inbreeding. Here, we examine three consanguineous Arab families, recruited in a quest to identify novel genes/mutations. All the families had multiple...

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Identifiers

PMID: 27121845
DOI: 10.1007/s11011-016-9827-9

Genes

RARS2
WWOX

Variants

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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