Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency.
Journal
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
ISSN: 1473-5733
Titre abrégé: Blood Coagul Fibrinolysis
Pays: England
ID NLM: 9102551
Informations de publication
Date de publication:
01 Jan 2022
01 Jan 2022
Historique:
pubmed:
21
11
2021
medline:
13
1
2022
entrez:
20
11
2021
Statut:
ppublish
Résumé
The aim of this study was to explore the molecular pathogenesis of two families with compound heterozygous hereditary factor XI deficiency. All the exons, flanking sequences, 5' and 3' untranslated regions of the F11 gene were analysed by direct DNA sequencing. The suspected variants were confirmed by reverse sequencing. Bioinformatics softwares were used to analysis the conservation and the possible impact of these pathogenic variants. Genetic analysis revealed c.689G > T and c.1556G > A variants of F11 gene in family A; c.1107C > A and c.1557G > C variants of F11 gene in family B. These variants sites were highly conserved among homologous species. Bioinformatics and structural analysis demonstrated these variants were pathogenic and could affect the protein structure. The c.689G > T, c.1556G > A, c.1107C > A and the c.1557G > C heterozygous variants might be responsible for the decrease of FXI levels in probands. In addition, c.689G > T (NM_000128.4) is a novel pathogenic variant site, which has not been reported.
Identifiants
pubmed: 34799507
doi: 10.1097/MBC.0000000000001105
pii: 00001721-202201000-00009
doi:
Substances chimiques
Factor XI
9013-55-2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
61-66Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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