一个中国汉族眼底白点病家系中 RDH5 基因的新变异。

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.

机构信息

Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China.

National Clinical Research Center for Eye Diseases, Shanghai, China.

出版信息

BMC Ophthalmol. 2022 Feb 11;22(1):69. doi: 10.1186/s12886-022-02301-5.

DOI:10.1186/s12886-022-02301-5

PMID:35148716

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8840791/

Abstract

BACKGROUND

The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus.

METHODS

Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.

RESULTS

Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.

CONCLUSION

We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.

摘要

背景

本研究旨在鉴定一个具有眼底白点病的中国家庭的遗传缺陷。

方法

对所有受检者进行全面的眼科检查，包括裂隙灯生物显微镜检查、散瞳间接检眼镜检查、眼底照相、自发荧光、扫频源光学相干断层扫描（SS-OCT）和全视野视网膜电图（ffERG）。从血样中提取基因组 DNA 并进行全基因组测序。通过 Sanger 测序对变异进行验证。

结果

本研究共纳入了该中国家族的 6 名成员，包括 3 名患者和 3 名对照。3 名入组患者的眼科检查均符合眼底白点病的表现。在视网膜脱氢酶 5（RDH5）基因中发现了三个变异，一个新的移码缺失 c.39delA [p.(Val14CysfsX47]和两个罕见错义变异的单倍型 c.683G > A [p.(Arg228Gln)]以及 c.710A > G [p.(Tyr237Cys]，与该家系中的眼底白点病呈常染色体隐性遗传方式共分离。