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

Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

Original Publication: Carlton South, Vic. : Blackwell Science Asia, c1999-

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

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.
(© 2024 Japan Pediatric Society.)

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

RefSeq NG_007877.1; NM_000377.3

0 (Wiskott-Aldrich Syndrome Protein)
0 (WAS protein, human)

Date Created: 20240420 Date Completed: 20240422 Latest Revision: 20240430

20240430

10.1111/ped.15770

38641933