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

ABSTRACT:

Purpose

There are few genetic studies and clinical descriptions of Asian patients with X-linked ocular albinism (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1.

Methods

Six families with OA1 were recruited from our pediatric and genetic eye clinic. Genomic DNA was prepared from venous leukocytes. The coding regions of GPR143 were amplified by polymerase chain reaction, and subsequently analyzed by direct sequencing. The variations detected were further evaluated in available family members as well as controls.

Results

Mutations in GPR143 were identified in each of the six families: c.849delT (p.Val284SerfsX15); c.238_240delCTC (p.Leu80del); c.658+

SUBMITTER: Fang S 

PROVIDER: S-EPMC2576482 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature