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

ABSTRACT: 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 followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus. The fundus of female carriers showed pigmented streaks alternating with hypopigmented streaks. These results allowed us to expand the spectrum of mutations in GPR143 and phenotypes associated with ocular albinism.

SUBMITTER: Zou X

PROVIDER: S-EPMC5314354 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Zou Xuan X Li Hui H Yang Lizhu L Sun Zixi Z Yuan Zhisheng Z Li Huajin H Sui Ruifang R

Scientific reports 20170217

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 followed by Sanger sequencing in these families. All affected individuals presented ...[more]

PMID: 28211458

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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

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GPR143 mutations in Chinese patients with ocular albinism type 1.

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