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 identified in six unrelated patients, including             five novel and one known. Of the six, three novel hemizygous mutations, c.92G>A             (p.Cys31Tyr), c.149G>C (p.Ary50Pro), and c.[272T>A;1429G>C] (p.[Leu91Gln;Gly477Arg]),             were found in NYX in three patients, respectively. A novel c.[1984_1986delCTC;3001G>A]             (p.[Leu662del;Gly1001Arg]) mutation was detected in CACNA1F in one patient. One             novel and one known heterozygous variation, c.1267T>C (p.Cys423Arg) and c.1537G>A             (p.Val513Met), were detected in GRM6 in two patients, respectively. No variations             were found in TRPM1. The results expand the mutation spectrum of NYX, CACNA1F             and GRM6. They also suggest that NYX mutations are a common cause of CSNB.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center,                     Sun Yat-sen University, Guangzhou, P.R. China.
Qin
Q
Wang
Yang
Y
Gao
Shiqiang
S
Li
Xiangming
X
Guo
Qingjiong
Q
Zhang
D000595:Amino Acid Sequence; D001483:Base Sequence; D020746:Calcium Channels, L-Type / Q000235:genetics*; D005091:Exons; D015785:Eye Diseases, Hereditary; D005260:Female; D040181:Genetic Diseases, X-Linked; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D009216:Myopia / Q000235:genetics*; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D011509:Proteoglycans / Q000235:genetics*; D017470:Receptors, Glutamate / Q000235:genetics*; D050053:TRPM Cation Channels / Q000235:genetics*
C113330:CACNA1F protein, human; D020746:Calcium Channels, L-Type; C576075:GRM6 protein, human; C416505:NYX protein, human; D011509:Proteoglycans; D017470:Receptors, Glutamate; D050053:TRPM Cation Channels; C492059:TRPM1 protein, human