Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 447-450, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-771993
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis.@*METHODS@#Whole exome sequencing (WES) was used to screen potential variations in the proband. Suspected variations were analyzed with bioinformatics software and validated by Sanger sequencing.@*RESULTS@#A heterozygous c.1123G>A (p.Glu375Lys) variation was detected in the proband and an affected fetus from pedigree 1, while a de novo heterozygous c.118 G>A (p.Val40Met) variation was detected in an affected fetus from pedigree 2.@*CONCLUSION@#The two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees. Above results have facilitated genetic counseling and prenatal diagnosis.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Artrogripose
/
Proteínas do Citoesqueleto
/
Sequenciamento do Exoma
/
Genética
/
Heterozigoto
/
Mutação
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