A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
Journal of Korean Medical Science
;
: 670-673, 2005.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neuropeptídeos
/
Encefalopatias
/
Análise Mutacional de DNA
/
Imageamento por Ressonância Magnética
/
Sequência de Bases
/
Córtex Cerebral
/
Coristoma
/
Mutação de Sentido Incorreto
/
Proteínas Associadas aos Microtúbulos
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2005
Tipo de documento:
Artigo
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