Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 798-800, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-776803
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome.@*METHODS@#Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother.@*CONCLUSION@#The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
China
/
Deleção de Sequência
/
Síndrome de Coffin-Lowry
/
Proteínas Quinases S6 Ribossômicas 90-kDa
/
Povo Asiático
/
Genética
/
Mutação
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo