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

  • Authors:
    • Qin Wang
    • Yang Gao
    • Shiqiang Li
    • Xiangming Guo
    • Qingjiong Zhang
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  • Published online on: June 20, 2012     https://doi.org/10.3892/ijmm.2012.1039
  • Pages: 521-526
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Abstract

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.
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September 2012
Volume 30 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Wang Q, Gao Y, Li S, Guo X and Zhang Q: Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. Int J Mol Med 30: 521-526, 2012
APA
Wang, Q., Gao, Y., Li, S., Guo, X., & Zhang, Q. (2012). Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. International Journal of Molecular Medicine, 30, 521-526. https://doi.org/10.3892/ijmm.2012.1039
MLA
Wang, Q., Gao, Y., Li, S., Guo, X., Zhang, Q."Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness". International Journal of Molecular Medicine 30.3 (2012): 521-526.
Chicago
Wang, Q., Gao, Y., Li, S., Guo, X., Zhang, Q."Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness". International Journal of Molecular Medicine 30, no. 3 (2012): 521-526. https://doi.org/10.3892/ijmm.2012.1039