Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness
نویسندگان
چکیده
منابع مشابه
Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
The aim of this study was to identify mutations in the TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness (CSNB). Twenty-four unrelated patients with CSNB were ascertained. Sanger sequencing was used to analyze the coding exons and adjacent intronic regions of TRPM1, GRM6, NYX and CACNA1F. Six mutations were ...
متن کاملA naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness
PURPOSE To identify the gene mutation responsible for a previously described rat model of X-linked congenital stationary night blindness (CSNB). METHODS Rat orthologous genes for Nyx and Cacna1f were isolated from retina through rapid amplification the cDNA ends (RACE) and examined for mutations. Electroretinograms were used to identify affected animals. RESULTS The rat Nyx cDNA spans 1,971...
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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 woul...
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OBJECTIVE To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. DESIGN Clinic-based, longitudinal, multicenter study. PARTICIPANTS A total of 39 patients with CSNB1 from 29 families and 62 patients with CSNB2 from 43 families. METHO...
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ژورنال
عنوان ژورنال: International Journal of Molecular Medicine
سال: 2012
ISSN: 1107-3756,1791-244X
DOI: 10.3892/ijmm.2012.1039