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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares