Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Abstract Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-spe...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Lulin Huang, Qi Zhang, Xin Huang, Chao Qu, Shi Ma, Yao Mao, Jiyun Yang, You Li, Yuanfeng Li, Chang Tan, Peiquan Zhao, Zhenglin Yang
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/4a4ee16d457b4847a14bd9d4c8c37786
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:4a4ee16d457b4847a14bd9d4c8c37786
record_format	dspace
spelling	oai:doaj.org-article:4a4ee16d457b4847a14bd9d4c8c377862021-12-02T11:52:35ZMutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families10.1038/s41598-017-00963-62045-2322https://doaj.org/article/4a4ee16d457b4847a14bd9d4c8c377862017-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-00963-6https://doaj.org/toc/2045-2322Abstract Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked. We then used whole exome sequencing (WES) analysis to detect mutations in the genes known for RP in 101 samples from these 98 families. In total, we identified 57 potential pathogenic mutations in 40 of the 98 (41%) families in 22 known RP genes, including 45 novel mutations. We detected mutations in 13 of the 22 (59%) typical autosomal dominant families, 8 of the 19 (42%) typical autosomal recessive families, 16 of the 52 (31%) sporadic small families, and four of the five (80%) X-linked families. Our results extended the mutation spectrum of known RP genes in Han Chinese, thus making a contribution to RP gene diagnosis and the pathogenetic study of RP genes.Lulin HuangQi ZhangXin HuangChao QuShi MaYao MaoJiyun YangYou LiYuanfeng LiChang TanPeiquan ZhaoZhenglin YangNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Lulin Huang Qi Zhang Xin Huang Chao Qu Shi Ma Yao Mao Jiyun Yang You Li Yuanfeng Li Chang Tan Peiquan Zhao Zhenglin Yang Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
description	Abstract Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked. We then used whole exome sequencing (WES) analysis to detect mutations in the genes known for RP in 101 samples from these 98 families. In total, we identified 57 potential pathogenic mutations in 40 of the 98 (41%) families in 22 known RP genes, including 45 novel mutations. We detected mutations in 13 of the 22 (59%) typical autosomal dominant families, 8 of the 19 (42%) typical autosomal recessive families, 16 of the 52 (31%) sporadic small families, and four of the five (80%) X-linked families. Our results extended the mutation spectrum of known RP genes in Han Chinese, thus making a contribution to RP gene diagnosis and the pathogenetic study of RP genes.
format	article
author	Lulin Huang Qi Zhang Xin Huang Chao Qu Shi Ma Yao Mao Jiyun Yang You Li Yuanfeng Li Chang Tan Peiquan Zhao Zhenglin Yang
author_facet	Lulin Huang Qi Zhang Xin Huang Chao Qu Shi Ma Yao Mao Jiyun Yang You Li Yuanfeng Li Chang Tan Peiquan Zhao Zhenglin Yang
author_sort	Lulin Huang
title	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
title_short	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
title_full	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
title_fullStr	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
title_full_unstemmed	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
title_sort	mutation screening in genes known to be responsible for retinitis pigmentosa in 98 small han chinese families
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/4a4ee16d457b4847a14bd9d4c8c37786
work_keys_str_mv	AT lulinhuang mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT qizhang mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT xinhuang mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT chaoqu mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT shima mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT yaomao mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT jiyunyang mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT youli mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT yuanfengli mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT changtan mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT peiquanzhao mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies AT zhenglinyang mutationscreeningingenesknowntoberesponsibleforretinitispigmentosain98smallhanchinesefamilies
_version_	1718394981900615680

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Ejemplares similares