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A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in...

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Autores principales: Liu, Tiecheng, Jin, Xin, Zhang, Xuemin, Yuan, Huijun, Cheng, Jing, Lee, Janet, Zhang, Baoquan, Zhang, Maonian, Wu, Jing, Wang, Lijuan, Tian, Geng, Wang, Weifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446876/
https://www.ncbi.nlm.nih.gov/pubmed/23029027
http://dx.doi.org/10.1371/journal.pone.0045464
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author Liu, Tiecheng
Jin, Xin
Zhang, Xuemin
Yuan, Huijun
Cheng, Jing
Lee, Janet
Zhang, Baoquan
Zhang, Maonian
Wu, Jing
Wang, Lijuan
Tian, Geng
Wang, Weifeng
author_facet Liu, Tiecheng
Jin, Xin
Zhang, Xuemin
Yuan, Huijun
Cheng, Jing
Lee, Janet
Zhang, Baoquan
Zhang, Maonian
Wu, Jing
Wang, Lijuan
Tian, Geng
Wang, Weifeng
author_sort Liu, Tiecheng
collection PubMed
description The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in SNRNP200. To identify the genetic defect in this family, exome of the proband was captured and sequencing analysis was performed to exclude known genetic defects and find possible pathogenic mutations. Subsequently, candidate mutations were validated in affected family members using Sanger sequencing. A novel missense mutation, c.2653C>G transition (p.Q885E), in exon 20 of SNRNP200 was identified. The mutation co-segregated with the disease phenotype over four generations and was absent in 100 normal unaffected individuals. This mutation occurs at highly conserved position in hBrr2 and is predicted to have a functional impact, suggesting that hBrr2-dependent small nuclear riboproteins (snRNPs) unwinding and spliceosome activation is important in the pathogenesis of some variants of RP.
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spelling pubmed-34468762012-10-01 A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family Liu, Tiecheng Jin, Xin Zhang, Xuemin Yuan, Huijun Cheng, Jing Lee, Janet Zhang, Baoquan Zhang, Maonian Wu, Jing Wang, Lijuan Tian, Geng Wang, Weifeng PLoS One Research Article The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in SNRNP200. To identify the genetic defect in this family, exome of the proband was captured and sequencing analysis was performed to exclude known genetic defects and find possible pathogenic mutations. Subsequently, candidate mutations were validated in affected family members using Sanger sequencing. A novel missense mutation, c.2653C>G transition (p.Q885E), in exon 20 of SNRNP200 was identified. The mutation co-segregated with the disease phenotype over four generations and was absent in 100 normal unaffected individuals. This mutation occurs at highly conserved position in hBrr2 and is predicted to have a functional impact, suggesting that hBrr2-dependent small nuclear riboproteins (snRNPs) unwinding and spliceosome activation is important in the pathogenesis of some variants of RP. Public Library of Science 2012-09-19 /pmc/articles/PMC3446876/ /pubmed/23029027 http://dx.doi.org/10.1371/journal.pone.0045464 Text en © 2012 Liu et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Liu, Tiecheng
Jin, Xin
Zhang, Xuemin
Yuan, Huijun
Cheng, Jing
Lee, Janet
Zhang, Baoquan
Zhang, Maonian
Wu, Jing
Wang, Lijuan
Tian, Geng
Wang, Weifeng
A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
title A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
title_full A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
title_fullStr A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
title_full_unstemmed A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
title_short A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
title_sort novel missense snrnp200 mutation associated with autosomal dominant retinitis pigmentosa in a chinese family
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446876/
https://www.ncbi.nlm.nih.gov/pubmed/23029027
http://dx.doi.org/10.1371/journal.pone.0045464
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