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Article

A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.

Investigative ophthalmology & visual science - 4 Dec 2014

Wang Feng, Li Huajin, Xu Mingchu, Li Hui, Zhao Li, Yang Lizhu, Zaneveld Jacques E, Wang Keqing, Li Yumei, Sui Ruifang, Chen Rui

Abstract excerpt

PURPOSE: Mutations in the same gene can lead to different clinical phenotypes. In this study, we aim to identify novel genotype-phenotype correlations and novel disease genes by analyzing an unsolved autosomal recessive retinitis pigmentosa (ARRP) Han Chinese family. METHODS: Whole exome sequencing was performed for one proband from the consanguineous ARRP family. Stringent variants filtering and prioritizations...

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Source

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Identifiers

PMID: 25477324
DOI: 10.1167/iovs.14-15382
PMCID: PMC4290556

Genes

NEUROD1

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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