Key result
WAS gene analysis identifies pathogenic mutations in ~39% of Vietnamese males with Wiskott-Aldrich syndrome.
Why the study?
WAS gene mutational analysis is crucial to definitively diagnose Wiskott-Aldrich syndrome, but data on the genetic background in Vietnamese patients had not been reported.
Observational (n=97)
The study expands the known mutational spectrum of the WAS gene in Vietnamese patients, identifying 17 novel variants to support genetic counseling.
May support genetic counseling in Vietnamese WAS patients; extends mutational spectrum but leaves broader applicability open.
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.
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Chuong et al. (2024) conducted an observational in Wiskott-Aldrich syndrome (n=97). WAS gene mutational analysis (Sanger sequencing) was evaluated on Identification of pathogenic mutations. WAS gene mutational analysis identified 36 distinct hemizygous pathogenic mutations, including 17 novel variants, in 39.2% of 97 Vietnamese male patients with Wiskott-Aldrich syndrome.
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