Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome

Pediatr Int. 2024 Jan-Dec;66(1):e15770. doi: 10.1111/ped.15770.

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.

Keywords: Vietnamese; WAS gene; Wiskott–Aldrich syndrome; hemizygous mutation; novel variant.

MeSH terms

  • DNA Mutational Analysis
  • Humans
  • Male
  • Mutation
  • Vietnam
  • Wiskott-Aldrich Syndrome Protein / genetics
  • Wiskott-Aldrich Syndrome* / diagnosis
  • Wiskott-Aldrich Syndrome* / genetics

Substances

  • Wiskott-Aldrich Syndrome Protein
  • WAS protein, human

Associated data

  • RefSeq/NG_007877.1
  • RefSeq/NM_000377.3