Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
نویسندگان
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.
منابع مشابه
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
AIM To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype. METHODS 11 CSNB families were diagnosed with the X linked form of the disease by clinical evaluation and mutation detection in either the NYX or CACNA1F gene. Phenotype of the CSNBX patients was defined by clinical examination, psychophysical, and standardised electrophysiological testing. ...
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