Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness

Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene...

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Autores principales: Dai, Shuzhen, Ying, Ming, Wang, Kai, Wang, Liming, Han, Ruifang, Hao, Peng, Li, Ningdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522681/
https://www.ncbi.nlm.nih.gov/pubmed/26234941
http://dx.doi.org/10.1038/srep12679
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author Dai, Shuzhen
Ying, Ming
Wang, Kai
Wang, Liming
Han, Ruifang
Hao, Peng
Li, Ningdong
author_facet Dai, Shuzhen
Ying, Ming
Wang, Kai
Wang, Liming
Han, Ruifang
Hao, Peng
Li, Ningdong
author_sort Dai, Shuzhen
collection PubMed
description Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study would be helpful for further studying molecular pathogenesis of CSNB.
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spelling pubmed-45226812015-08-06 Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness Dai, Shuzhen Ying, Ming Wang, Kai Wang, Liming Han, Ruifang Hao, Peng Li, Ningdong Sci Rep Article Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study would be helpful for further studying molecular pathogenesis of CSNB. Nature Publishing Group 2015-08-03 /pmc/articles/PMC4522681/ /pubmed/26234941 http://dx.doi.org/10.1038/srep12679 Text en Copyright © 2015, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Dai, Shuzhen
Ying, Ming
Wang, Kai
Wang, Liming
Han, Ruifang
Hao, Peng
Li, Ningdong
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
title Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
title_full Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
title_fullStr Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
title_full_unstemmed Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
title_short Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
title_sort two novel nyx gene mutations in the chinese families with x-linked congenital stationary night blindness
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522681/
https://www.ncbi.nlm.nih.gov/pubmed/26234941
http://dx.doi.org/10.1038/srep12679
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