Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.

Autor: Xinh PT; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Chuong HQ; Center for Molecular Biomedicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam.; Faculty of Biology, Biotechnology, University of Science, Vietnam National University, Ho Chi Minh City, Vietnam., Diem TPH; Department of Hematolwogy, Cho Ray Hospital, Ho Chi Minh City, Vietnam., Nguyen TM; Children's Hospital 1, Department of Hematology, Ho Chi Minh City, Vietnam., Van ND; Department of Oncology and Hematology, Children's Hospital 2, Ho Chi Minh City, Vietnam., Mai Anh NH; Department of Hematology, City Children's Hospital, Ho Chi Minh City, Vietnam., Nghia H; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy, 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, Ho Chi Minh City, Vietnam.
Jazyk: angličtina
Zdroj: International journal of laboratory hematology [Int J Lab Hematol] 2021 Dec; Vol. 43 (6), pp. 1524-1530. Date of Electronic Publication: 2021 Aug 02.
DOI: 10.1111/ijlh.13674
Abstrakt: Introduction: The prevalence of gene mutations in hemophagocytic lymphohistiocytosis (HLH) varied between studies. Thus far, data on the genetic background of HLH in Vietnamese patients are limited.
Methods: We recruited 94 HLH patients and analyzed for the 4 genes using Sanger sequencing technology.
Results: Pathogenic variants were observed in 36 (38.29%) patients, including 27 in UNC13D, 5 in STXBP2, 3 in PRF1, and 2 in STX11 (one patient with digenic variants in both UNC13D and STX11). Monoallelic variants accounted for 77.8% of all cases with mutation. A total of 23 different types of pathogenic variants were documented in the 4 genes tested, including 15 in UNC13D, 3 in PRF1, 3 in STXBP2, and 2 in STX11. Interestingly, the novel splicing variant c.3151G>A in UNC13D was recurrently identified in 8 unrelated patients.
Conclusion: Vietnamese patients with HLH showed a distinct genetic variant spectrum, in which UNC13D is the predominant genetic lesion associated with HLH.
(© 2021 John Wiley & Sons Ltd.)
Databáze: MEDLINE
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