A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
Journal of Korean Medical Science
;
: 670-673, 2005.
Artículo
en Inglés
| WPRIM
| ID: wpr-25778
ABSTRACT
The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mutations identified to date are located in two evolutionarily conserved domains. We performed mutation analysis of DCX in two Korean patients with SBH. The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. The sequence variation results in a serine to leucine amino acid change at position 129 (S129L), which has not been found in other family members of Patient 1 or in a large panel of 120 control X-chromosomes. We report here a novel c.386 C>T mutation of DCX that is responsible for SBH.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Neuropéptidos
/
Encefalopatías
/
Análisis Mutacional de ADN
/
Imagen por Resonancia Magnética
/
Secuencia de Bases
/
Corteza Cerebral
/
Coristoma
/
Mutación Missense
/
Proteínas Asociadas a Microtúbulos
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2005
Tipo del documento:
Artículo
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