Identification of a de novo missense variant of ARID1B gene in a child with mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1154-1157, 2020.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-827721
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#The child was subjected to next generation sequencing (NGS). Candidate variant was analyzed with bioinformatic software.@*RESULTS@#NGS revealed that the child has carried a de novo heterozygous c.4035G>C (p.Gln1345His) variant of the ARID1B gene. The variant was unreported previously and may cause instability of the protein structure.@*CONCLUSION@#The de novo missense variant of ARID1B gene may underlie the mental retardation in the child. Above result has enabled genetic counseling and prenatal diagnosis for her family.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo