Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.
Pediatr Int
; 66(1): e15770, 2024.
Article
em En
| MEDLINE
| ID: mdl-38641933
ABSTRACT
BACKGROUND:
WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott-Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.METHODS:
We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.RESULTS:
We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non-stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.CONCLUSION:
Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Wiskott-Aldrich
Limite:
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article