Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
Annals of Laboratory Medicine
;
: 395-398, 2014.
Article
in English
| WPRIM
| ID: wpr-216381
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Base Sequence
/
Exons
/
Frameshift Mutation
/
Sequence Deletion
/
Sequence Analysis, DNA
/
Nucleic Acid Amplification Techniques
/
Jervell-Lange Nielsen Syndrome
/
Electrocardiography
/
Alleles
Type of study:
Prognostic study
Limits:
Adolescent
/
Humans
/
Male
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2014
Type:
Article
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