Long QT syndrome 13 (LQT13)

Long QT syndrome 13 (LQT13)

Long QT syndrome 13 (LQT13) was described by Yanzong Yang, Yiqing Yang, Bo Liang, Jinqiu Liu, Jun Li, Morten Grunnet, Søren-Peter Olesen, Hanne B Rasmussen, Patrick T Ellinor, Lianjun Gao, Xiaoping Lin, Li Li, Lei Wang, Junjie Xiao, Yi Liu, Ying Liu, Shulong Zhang, Dandan Liang, Luying Peng, Thomas Jespersen and Yi-Han Chen in a large four generation Chinese family in 2010 [1]. The proband was a sixty two year old woman who had a history of recurrent syncope over the past forty years. Nine of her forty nine family members had LQTS. The proband and three affected relatives developed persistent atrial fibrillation. One younger brother of the proband had recurrent seizures and syncopal episodes and died suddenly at the age of seven days. This family had an autosomal dominant pattern of inheritance the genetic defect was mapped to chromosome 11q23.3-q23.4 and the candidate gene was KCNJ5. Two asymptomatic family members also had this missense mutation. This disorder has been allotted a phenotype MIM number of 613485 and the gene/locus MIM number is 600734 in the OMIM (Online Mendelian Inheritance in Man) database.

Reference

1. Yanzong Yang, Yiqing Yang, Bo Liang, Jinqiu Liu, Jun Li, Morten Grunnet, Søren-Peter Olesen, Hanne B Rasmussen, Patrick T Ellinor, Lianjun Gao, Xiaoping Lin, Li Li, Lei Wang, Junjie Xiao, Yi Liu, Ying Liu, Shulong Zhang, Dandan Liang, Luying Peng, Thomas Jespersen, Yi-Han Chen. Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome. Am J Hum Genet. 2010 Jun 11;86(6):872-80.