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Article

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Journal of medical genetics - 1 May 2017

Gerber Sylvie, Ding Martina G, Gérard Xavier, Zwicker Klaus, Zanlonghi Xavier, Rio Marlène, Serre Valérie, Hanein Sylvain, Munnich Arnold, Rotig Agnès, Bianchi Lucas, Amati-Bonneau Patrizia, Elpeleg Orly, Kaplan Josseline, Brandt Ulrich, Rozet Jean-Michel

Abstract excerpt

BACKGROUND: Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. The objective of the present study was to identify the molecular cause of non-syndromic...

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Source

Identifiers

PMID: 28031252
DOI: 10.1136/jmedgenet-2016-104212

Genes

NDUFS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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