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Article

Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.

BMC ophthalmology - 30 Mar 2021

Mao Xiying, Chen Mingkang, Yu Yan, Liu Qinghuai, Yuan Songtao, Fan Wen

Abstract excerpt

BACKGROUND: Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an atypical manifestation of OA1. CASE PRESENTATION: We reported a large Chinese family in which all affected...

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Identifiers

PMID: 33785018
DOI: 10.1186/s12886-021-01905-7
PMCID: PMC8011130

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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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