Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
Annals of Laboratory Medicine
;
: 395-398, 2014.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Sequência de Bases
/
Éxons
/
Mutação da Fase de Leitura
/
Deleção de Sequência
/
Análise de Sequência de DNA
/
Técnicas de Amplificação de Ácido Nucleico
/
Síndrome de Jervell-Lange Nielsen
/
Eletrocardiografia
/
Alelos
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Annals of Laboratory Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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