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The aim of this study was to identify mutations in the TRPM1, GRM6, NYXand CACNA1F genes in patients with congenital stationary night blindness (CSNB).Twenty-four unrelated patients with CSNB were ascertained. Sanger sequencing wasused to analyze the coding exons and adjacent intronic regions of TRPM1, GRM6,NYX and CACNA1F. Six mutations were identified in six unrelated patients, includingfive novel and one known. Of the six, three novel hemizygous mutations, c.92G&gt;A(p.Cys31Tyr), c.149G&gt;C (p.Ary50Pro), and c.[272T&gt;A;1429G&gt;C] (p.[Leu91Gln;Gly477Arg]),were found in NYX in three patients, respectively. A novel c.[1984_1986delCTC;3001G&gt;A](p.[Leu662del;Gly1001Arg]) mutation was detected in CACNA1F in one patient. Onenovel and one known heterozygous variation, c.1267T&gt;C (p.Cys423Arg) and c.1537G&gt;A(p.Val513Met), were detected in GRM6 in two patients, respectively. No variationswere found in TRPM1. The results expand the mutation spectrum of NYX, CACNA1Fand GRM6. They also suggest that NYX mutations are a common cause of CSNB.

Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness