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Article

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

Journal of medical genetics - 1 Jul 2014

Khateb Samer, Zelinger Lina, Mizrahi-Meissonnier Liliana, Ayuso Carmen, Koenekoop Robert K, Laxer Uri, Gross Menachem, Banin Eyal, Sharon Dror

Abstract excerpt

BACKGROUND: Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes. METHODS: Clinical examination included visual acuity test, funduscopy and electroretinography. Genetic analysis included homozygosity mapping and whole exome sequencing (WES). RESULTS: A...

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Identifiers

PMID: 24780881
DOI: 10.1136/jmedgenet-2014-102287

Genes

NEK2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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