Work

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

Year: 2015

Type: article

Abstract: 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.

Source: Scientific Reports

DOI: 10.1038/srep12679