Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome

Circ J. 2008 Oct;72(10):1705-6. doi: 10.1253/circj.cj-08-0508. Epub 2008 Sep 2.

Abstract

Brugada syndrome is an inherited arrhythmic disorder, and mutations in the SCN5A gene, encoding cardiac sodium channels, are identified in approximately 15% of cases. A novel causative gene (glycerol-3 phosphate dehydrogenase-1 like; GPD1L) has been reported, and in the present study, 80 unrelated Japanese patients were screened for GPD1L mutations: 1 synonymous mutation was identified, as well as 1 intronic variant, both of which were absent in 220 control alleles. Additionally, a single-nucleotide polymorphism was detected in 4 patients. No non-synonymous mutations were found. GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population.

MeSH terms

  • Asian People / genetics
  • Brugada Syndrome / genetics*
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis / methods*
  • DNA Primers
  • Genetic Variation
  • Glycerolphosphate Dehydrogenase / genetics*
  • Humans
  • Introns
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Reference Values

Substances

  • DNA Primers
  • GPD1L protein, human
  • Glycerolphosphate Dehydrogenase