TOPORS基因的突变：欧洲大陆常染色体显性遗传性视网膜色素变性的罕见病因？

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

作者信息

Schob Claudia, Orth Ulrike, Gal Andreas, Kindler Stefan, Chakarova Christina F, Bhattacharya Shomi S, Rüther Klaus

机构信息

Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

出版信息

Ophthalmic Genet. 2009 Jun;30(2):96-8. doi: 10.1080/13816810802695543.

DOI:10.1080/13816810802695543

PMID:19373681

Abstract

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel missense mutations (c.1205A > C/p.Q402P and c.1818T > G/p.S606R). Whether the latter two variants represent adRP causing mutations awaits further analysis.

摘要

TOPORS基因的突变会导致常染色体显性遗传性视网膜色素变性（adRP）。对来自欧洲大陆的160例adRP患者进行检测，发现了9个外显子单核苷酸变异，其中8个位于编码区；3个同义单核苷酸多态性（SNPs；c.2319T > C、c.2991T > C和c.1560A > G）、3个非同义SNPs（c.58C > T/p.P20S、c.74C >G/p.S25W和c.1730C > A/p.S577Y）以及2个新的错义突变（c.1205A > C/p.Q402P和c.1818T > G/p.S606R）。后两个变异是否代表导致adRP的突变有待进一步分析。