Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 659-661, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-254542
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.</p><p><b>METHODS</b>Clinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members. Genomic DNA was extracted. Mutation analysis of GJB1 gene was analyzed with PCR and direct sequencing.</p><p><b>RESULTS</b>The family has fit with X-linked inheritance, and the affected individuals have typical clinical manifestations. A c.614A>G (p.Asn205Ser) mutation was detected in the GJB1 gene in all affected individuals in the family.</p><p><b>CONCLUSION</b>A c.614A>G (p.Asn205Ser) mutation of GJB1 gene is co-segregated with the disease phenotype in this family and probably underlies the disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Enfermedad de Charcot-Marie-Tooth
/
Conexinas
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Pueblo Asiatico
/
Genes Ligados a X
/
Genética
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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