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

• Published in: Pediatrics international 2024-01, Vol.66 (1), p.e15770-n/a
• Main Authors: Chuong, Ho Quoc, Xinh, Phan Thi, Tram, Duong Bich, Ha, Nguyen Thi Thanh, Nguyen, Tuan Minh, Anh, Phan Nguyen Lien, Van, Nguyen Dinh, Anh, Nguyen Hoang Mai, Dung, Phu Chi, Nghia, Huynh, Vu, Hoang Anh
• Format: Article
• Language: English
• Subjects: DNA Mutational Analysis; Genetic analysis; Genetic counseling; hemizygous mutation; Humans; Male; Mutation; novel variant; Point mutation; Vietnam; Vietnamese; WAS gene; Wiskott-Aldrich syndrome; Wiskott-Aldrich Syndrome - diagnosis; Wiskott-Aldrich Syndrome - genetics; Wiskott-Aldrich Syndrome Protein - genetics
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.15770

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.