Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 25-28, 2014.
Artigo
em Coreano
| WPRIM
| ID: wpr-170246
ABSTRACT
Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative genome hybridization (aCGH) is widely used as an initial molecular diagnostic tool. If no deletions or duplications are found in MLPA or aCGH, the samples must be subjected to a second test of direct sequencing. Direct sequencing of the DMD gene, however, is time-consuming, high-cost, and can be inconclusive. Here, we performed whole exome sequencing on a patient with progressive muscle weakness whose MLPA result was negative; the result revealed a rare frame shift mutation. Direct sequencing on the patient's mother showed the same mutation. Whole exome sequencing can be a new diagnostic routine for DMD patients with negative MLPA3.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Distrofina
/
Mutação da Fase de Leitura
/
Debilidade Muscular
/
Distrofia Muscular de Duchenne
/
Hibridização Genômica Comparativa
/
Patologia Molecular
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Reação em Cadeia da Polimerase Multiplex
/
Exoma
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2014
Tipo de documento:
Artigo
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