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Article

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Scientific reports - 17 Feb 2017

Zou Xuan, Li Hui, Yang Lizhu, Sun Zixi, Yuan Zhisheng, Li Huajin, Sui Ruifang

Abstract excerpt

X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR...

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PMID: 28211458
DOI: 10.1038/srep33713
PMCID: PMC5314354

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