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

Autor: Chuong HQ; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Xinh PT; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Tram DB; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Open University, Ho Chi Minh City, Vietnam., Ha NTT; Department of Molecular Biology, Dai Phuoc Clinic, Ho Chi Minh City, Vietnam., Nguyen TM; Department of Hematology, Children's Hospital 1, Ho Chi Minh City, Vietnam., Anh PNL; Department of Hematology, Children's Hospital 1, Ho Chi Minh City, Vietnam., Van ND; Department of Oncology and Hematology, Children's Hospital 2, Ho Chi Minh City, Vietnam., Anh NHM; Department of Hematology, City Children's Hospital, Ho Chi Minh City, Vietnam., Dung PC; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Nghia H; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Vu HA; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Jazyk: angličtina
Zdroj: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15770.
DOI: 10.1111/ped.15770
Abstrakt: 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.)
Databáze: MEDLINE
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