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Article

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Neurology - 2 Feb 2016

Goldstein Orly, Nayshool Omri, Nefussy Beatrice, Traynor Bryan J, Renton Alan E, Gana-Weisz Mali, Drory Vivian E, Orr-Urtreger Avi

Abstract excerpt

OBJECTIVE: To detect genetic variants underlying familial and sporadic amyotrophic lateral sclerosis (ALS). METHODS: We analyzed 2 founder Jewish populations of Moroccan and Ashkenazi origins and ethnic matched controls. Exome sequencing of 2 sisters with ALS from Morocco was followed by genotyping the identified causative null mutation in 379 unrelated patients with ALS and 1,000 controls. The shared risk...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Transport Proteins

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Share to Mutation, Missense

Share to Transcription Factor TFIIIA

Source

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Identifiers

PMID: 26740678
DOI: 10.1212/WNL.0000000000002334
PMCID: PMC4773945

Genes

OPTN

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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