Cargando…
Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
As 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...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268256/ https://www.ncbi.nlm.nih.gov/pubmed/32436957 http://dx.doi.org/10.1042/BSR20193443 |
_version_ | 1783541576994127872 |
---|---|
author | Wei, Chunli Xiao, Ting Cheng, Jingliang Fu, Jiewen Zhou, Qi Yang, Lisha Lv, Hongbin Fu, Junjiang |
author_facet | Wei, Chunli Xiao, Ting Cheng, Jingliang Fu, Jiewen Zhou, Qi Yang, Lisha Lv, Hongbin Fu, Junjiang |
author_sort | Wei, Chunli |
collection | PubMed |
description | As 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. |
format | Online Article Text |
id | pubmed-7268256 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Portland Press Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-72682562020-06-10 Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree Wei, Chunli Xiao, Ting Cheng, Jingliang Fu, Jiewen Zhou, Qi Yang, Lisha Lv, Hongbin Fu, Junjiang Biosci Rep Diagnostics & Biomarkers As 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. Portland Press Ltd. 2020-06-02 /pmc/articles/PMC7268256/ /pubmed/32436957 http://dx.doi.org/10.1042/BSR20193443 Text en © 2020 The Author(s). https://creativecommons.org/licenses/by/4.0/ 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). |
spellingShingle | Diagnostics & Biomarkers Wei, Chunli Xiao, Ting Cheng, Jingliang Fu, Jiewen Zhou, Qi Yang, Lisha Lv, Hongbin Fu, Junjiang Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree |
title | Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree |
title_full | Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree |
title_fullStr | Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree |
title_full_unstemmed | Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree |
title_short | Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree |
title_sort | novel compound heterozygous eys variants may be associated with arrp in a large chinese pedigree |
topic | Diagnostics & Biomarkers |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268256/ https://www.ncbi.nlm.nih.gov/pubmed/32436957 http://dx.doi.org/10.1042/BSR20193443 |
work_keys_str_mv | AT weichunli novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT xiaoting novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT chengjingliang novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT fujiewen novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT zhouqi novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT yanglisha novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT lvhongbin novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree AT fujunjiang novelcompoundheterozygouseysvariantsmaybeassociatedwitharrpinalargechinesepedigree |