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

Int J Mol Med. 2012 Sep;30(3):521-6. doi: 10.3892/ijmm.2012.1039. Epub 2012 Jun 20.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Calcium Channels, L-Type / genetics*
  • Exons
  • Eye Diseases, Hereditary
  • Female
  • Genetic Diseases, X-Linked
  • Genotype
  • Humans
  • Male
  • Mutation*
  • Myopia / genetics*
  • Night Blindness / genetics*
  • Pedigree
  • Proteoglycans / genetics*
  • Receptors, Glutamate / genetics*
  • TRPM Cation Channels / genetics*

Substances

  • CACNA1F protein, human
  • Calcium Channels, L-Type
  • GRM6 protein, human
  • NYX protein, human
  • Proteoglycans
  • Receptors, Glutamate
  • TRPM Cation Channels
  • TRPM1 protein, human

Supplementary concepts

  • Night blindness, congenital stationary