Genetic analysis of a pedigree with hereditary coagulation factor XII 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 Sep 2021
01 Sep 2021
Historique:
pubmed:
12
5
2021
medline:
27
11
2021
entrez:
11
5
2021
Statut:
ppublish
Résumé
The aim of this study was to elucidate the molecular defects of a Chinese family with hereditary coagulation factor XII (FXII) deficiency. The FXII activity (FXII:C) and FXII antigen (FXII:Ag) levels were measured by clotting assay and ELISA, respectively. To identify mutations, the F12 gene sequencing was carried out. ClustalX-2.1-win and four online bioinformatics tools were applied to study the conservatism and harm of the mutation. The proband's FXII:C and FXII:Ag were 3 and 4%, respectively. Sequencing analysis revealed compound heterozygous mutations, including the deletion mutation (c.130delG) resulting in p.E26Sfs∗50 and the missense mutation (c.1561G>A) resulting in p.E502K. Bioinformatics indicated that mutations probably disrupt the function of the FXII protein. The c.130delG heterozygous deletion variation and the c.1561G>A heterozygous missense variation were responsible for the reduction of FXII:C in this family, of which c.130delG was first reported in the world.
Identifiants
pubmed: 33973893
doi: 10.1097/MBC.0000000000001044
pii: 00001721-202109000-00008
doi:
Substances chimiques
Factor XII
9001-30-3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
406-410Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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