Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
Annals of Laboratory Medicine
;
: 395-398, 2014.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Secuencia de Bases
/
Exones
/
Mutación del Sistema de Lectura
/
Eliminación de Secuencia
/
Análisis de Secuencia de ADN
/
Técnicas de Amplificación de Ácido Nucleico
/
Síndrome de Jervell-Lange Nielsen
/
Electrocardiografía
/
Alelos
Tipo de estudio:
Estudio pronóstico
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2014
Tipo del documento:
Artículo
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