Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.

Content Provider	Europe PMC
Author	Wei, Chunli Xiao, Ting Cheng, Jingliang Fu, Jiewen Zhou, Qi Yang, Lisha Lv, Hongbin Fu, Junjiang
Copyright Year	2020
Abstract	AbstractAs a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting of 31 members including a proband and another two patients was recruited; clinical examinations were conducted; next-generation sequencing using a gene panel was used for identifying pathogenic genes, and Sanger sequencing was performed for verification of mutations. Novel compound heterozygous variants c.G2504A (p.C835Y) and c.G6557A (p.G2186E) for the EYS gene were identified, which co-segregated with the clinical RP phenotypes. Sequencing of 100 ethnically matched normal controls didn’t found these mutations in EYS. Therefore, our study identified pathogenic variants in EYS that may cause arRP in this Chinese family. This is the first study to reveal the novel mutation in the EYS gene (c.G2504A, p.C835Y), extending its mutation spectrum. Thus, the EYS c.G2504A (p.C835Y) and c.G6557A (p.G2186E) variants may be the disease-causing missense mutations for RP in this large arRP family. These findings should be helpful for molecular diagnosis, genetic counseling and clinical management of arRP disease.
Page Count	10
ISSN	01448463
Volume Number	40
PubMed Central reference number	PMC7268256
Issue Number	6
PubMed reference number	32436957
Journal	Bioscience Reports [Biosci. Rep]
e-ISSN	15734935
DOI	10.1042/BSR20193443
Language	English
Publisher	Portland Press Ltd.
Publisher Date	2020-06-01
Access Restriction	Open
Rights License	This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY). © 2020 The Author(s).
Subject Keyword	Compound heterozygous variants EYS gene Missense mutation Next generation sequencing (NGS) Retinitis pigmentosa (RP)
Content Type	Text
Resource Type	Article
Subject	Cell Biology Molecular Biology Biochemistry Biophysics