PubMed 25187895

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv7.1

Title: Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

Authors: Ji Yeon Sung, Eun Jung Bae, Seungman Park, So Yeon Kim, Ye Jin Hyun, Sung Sup Park, Moon-Woo Seong

Journal, date & volume: Ann Lab Med, 2014 Sep , 34, 395-8

PubMed link:

Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing loss and prolonged QT interval whose condition was clinically diagnosed as Jervell and Lange-Nielsen syndrome (JLNS), a recessive form of LQTS. Genetic analyses using sequence analysis and multiplex ligation-dependent probe amplification (MLPA) assay revealed a large deletion spanning exons 7-10 as well as a frameshift mutation (c.1893dup; p.Arg632Glnfs*20). To our knowledge, this is the first report of a large deletion in KCNQ1 identified in JLNS patients. This case indicates that a method such as MLPA, which can identify large deletions or duplications needs to be considered in addition to sequence analysis to diagnose JLNS.