Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 462-464, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771990
ABSTRACT
OBJECTIVE@#To detect mutation of NDP gene in a pedigree affected with Norrie disease.@*METHODS@#Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.@*RESULTS@#Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.@*CONCLUSION@#The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Degeneração Retiniana
/
Espasmos Infantis
/
Cegueira
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Proteínas do Olho
/
Proteínas do Tecido Nervoso
/
Doenças do Sistema Nervoso
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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