A phenotype-genotype study of X-linked retinoschisis in RS1 mutations

Authors: Cai Bo,  Liu Yang,  Piao Shunyu,  Wang Shaolin,  Li Wenjing,  Chen Lin,  Tian Tian,  Xue Yajun,  Zhuang Wenjuan

DOI: 10.3760/cma.j.cn115985-20190711-00307
Published 2020-04-10
Cite as Chin J Exp Ophthalmol, 2020,38(04): 322-330.

Abstract

Objective

To describe the characteristics of genotype and phenotype in 3 families with X-linked retinoschisis (XLRS) due to RS1 mutations.

Methods

A cross-sectional approach was adopted.Three XLRS families at the Ningxia Eye Hospital from October 2017 to March 2019 were included.Clinical data and peripheral blood of patients and related families were collected and clinically staged were formulated through a comprehensive eye examination.The disease-causing genes screened by panel sequencing underwent conservative analysis, pathogenicity analysis and protein structure prediction by software tools.Analysis of the mutations pathogenicity was performed according to the American College of Medical Genetics and Genomics guidelines.The research was approved by Medical Ethics Committee of the People’s Hospital of Ningxia Hui Autonomous Region and followed the Declaration of Helsinki.Written informed consent was obtained from each participant.

Results

Total 5 young male patients and 1 middle-aged patient in these three families.The optical coherence tomography(OCT) findings of 5 young patients showed typical macular retinoschisis, which were characterized by stage I of XLRS.One middle-aged patient (Ⅱ-9) showed a stage Ⅲ lesion of macular atrophy.The mutations of c. 668G>A, c.618G>A and exon 1 deletion in RS1 gene were found in the three families.C223 and W206 were verified to be highly conserved in mammals and were predicted to be pathogenic mutations by software and the change of protein structure.Conservation analysis and prediction of protein structure were not performed for the mutation of exon 1 deletion.All the mutations were pathogenic variants according to the ACGM guidelines.

Conclusions

Mutations of c. 668G>A/p.C223Y, c.618G>A/p.W206X and exon 1 deletion in RS1 gene are pathogenic mutations in Chinese XLRS families.The combination of Panel sequencing with pathogenicity analysis and protein structure prediction have important effect to diagnosis and identify the causative genes for the hereditary retinal diseases.

Key words:

X-linked retinoschisis; RS1 gene; Mutation

Contributor Information

Cai Bo
Clinical Medicine College, Ningxia Medical University, Yinchuan 750001, China
Liu Yang
Department of Ophthalmology, Ning Xia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, First Affiliated Hospital of Northwest University for Nationalities, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, China
Piao Shunyu
Department of Ophthalmology, Ning Xia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, First Affiliated Hospital of Northwest University for Nationalities, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, China
Wang Shaolin
Department of Ophthalmology, Ning Xia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, First Affiliated Hospital of Northwest University for Nationalities, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, China
Li Wenjing
Clinical Medicine College, Ningxia Medical University, Yinchuan 750001, China
Chen Lin
Clinical Medicine College, Ningxia Medical University, Yinchuan 750001, China
Tian Tian
Clinical Medicine College, Ningxia Medical University, Yinchuan 750001, China
Xue Yajun
Department of Ophthalmology, Ning Xia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, First Affiliated Hospital of Northwest University for Nationalities, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, China
Zhuang Wenjuan
Department of Ophthalmology, Ning Xia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, First Affiliated Hospital of Northwest University for Nationalities, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, China
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Updated: May 8, 2020 — 8:30 am