Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 74-78, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-232201
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.</p><p><b>METHODS</b>Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.</p><p><b>RESULTS</b>A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.</p><p><b>CONCLUSION</b>A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Neuropéptidos
/
Encéfalo
/
Imagen por Resonancia Magnética
/
Secuencia de Bases
/
Exones
/
Diagnóstico
/
Electroencefalografía
/
Epilepsia
/
Lisencefalias Clásicas y Heterotopias Subcorticales en Banda
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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