Why the study?
Are GPD1L mutations a major cause of Brugada syndrome in Japanese patients?
Are GPD1L mutations a major cause of Brugada syndrome in Japanese patients?
GPD1L mutations do not appear to be a major cause of Brugada syndrome in the Japanese population.
GPD1L mutations unlikely major cause in Japanese Brugada syndrome; leaves open rare-variant roles in other ancestries.
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.
No takes yet. Share an insight, caveat, or question.
Makiyama et al. (2008) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: