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

Sci Rep. 2015 Aug 3:5:12679. doi: 10.1038/srep12679.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Asian People / genetics
  • Child
  • China
  • DNA Mutational Analysis
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / metabolism
  • Female
  • Genes, X-Linked*
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / metabolism
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Myopia / genetics*
  • Myopia / metabolism
  • Night Blindness / genetics*
  • Night Blindness / metabolism
  • Pedigree
  • Protein Conformation
  • Proteoglycans / genetics*
  • Proteoglycans / metabolism
  • Sequence Alignment
  • Young Adult

Substances

  • NYX protein, human
  • Proteoglycans

Supplementary concepts

  • Night blindness, congenital stationary