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

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....

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Bibliographic Details
Published in:International journal of laboratory hematology 2021-12, Vol.43 (6), p.1524-1530
Main Authors: Xinh, Phan Thi, Chuong, Ho Quoc, Diem, Truong Pham Hong, Nguyen, Tuan Minh, Van, Nguyen Dinh, Mai Anh, Nguyen Hoang, Nghia, Huynh, Vu, Hoang Anh
Format: Article
Language:English
Subjects:
Alleles
Alternative Splicing
Biomarkers
DNA Mutational Analysis
Genetic Association Studies
Genetic diversity
Genetic Predisposition to Disease
Genetic Testing
Histiocytosis
Humans
Lymphocytosis
Lymphohistiocytosis, Hemophagocytic - diagnosis
Lymphohistiocytosis, Hemophagocytic - genetics
Membrane Proteins - genetics
Munc18 Proteins - genetics
Mutation
Perforin - genetics
PRF1
Qa-SNARE Proteins - genetics
STX11
STXBP2
UNC13D
Vietnam
vietnamese
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Summary: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.
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.13674