Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome.
10.3343/alm.2014.34.5.395
- Author:
Ji Yeon SUNG
1
;
Eun Jung BAE
;
Seungman PARK
;
So Yeon KIM
;
Ye Jin HYUN
;
Sung Sup PARK
;
Moon Woo SEONG
Author Information
1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea. mwseong@snu.ac.kr
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Jervell and Lange-Nielsen syndrome;
KCNQ1 mutation;
Multiplex ligation-dependent probe amplification;
Exon deletion
- MeSH:
Adolescent;
Alleles;
Base Sequence;
Electrocardiography;
Exons;
Frameshift Mutation;
Heterozygote;
Humans;
Jervell-Lange Nielsen Syndrome/diagnosis/*genetics;
KCNQ1 Potassium Channel/*genetics;
Male;
Nucleic Acid Amplification Techniques;
Pedigree;
Sequence Analysis, DNA;
Sequence Deletion
- From:Annals of Laboratory Medicine
2014;34(5):395-398
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
