Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
Journal of Korean Medical Science
;
: 951-953, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-31550
ABSTRACT
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Espasmos Infantiles
/
Imagen por Resonancia Magnética
/
Análisis de Secuencia de ADN
/
Adenosina Trifosfatasas
/
Proteínas de Transporte de Catión
/
Pueblo Asiatico
/
República de Corea
/
Síndrome del Pelo Ensortijado
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2011
Tipo del documento:
Artículo
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