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

نویسندگان

  • Shuzhen Dai
  • Ming Ying
  • Kai Wang
  • Liming Wang
  • Ruifang Han
  • Peng Hao
  • Ningdong Li
چکیده

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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عنوان ژورنال:

دوره 5  شماره 

صفحات  -

تاریخ انتشار 2015