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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...

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Autores principales: Wei, Chunli, Xiao, Ting, Cheng, Jingliang, Fu, Jiewen, Zhou, Qi, Yang, Lisha, Lv, Hongbin, Fu, Junjiang
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
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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.
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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
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