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KMID : 1100720140340050395
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Annals of Laboratory Medicine
2014 Volume.34 No. 5 p.395 ~ p.398
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Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
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Sung Ji-Yeon
Bae Eun-Jung
Park Seung-Man
Kim So-Yeon
Hyun Ye-Jin
Park Sung-Sup
Seong Moon-Woo
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Abstract
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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.
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KEYWORD
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Jervell and Lange-Nielsen syndrome, KCNQ1 mutation, Multiplex ligation-dependent probe amplification, Exon deletion
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