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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Doença de Charcot-Marie-Tooth
/
Conexinas
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Povo Asiático
/
Genes Ligados ao Cromossomo X
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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