Analysis of a pedigree affected with hereditary coagulation factor XII deficiency due to a homozygous 252delAsn deletion of F12 gene.
10.3760/cma.j.issn.1003-9406.2020.07.013
- Author:
Xiaoli CHENG
1
;
Liu YANG
;
Yijuan XIN
;
Lin ZHU
;
Mingquan SU
;
Xiaoke HAO
Author Information
1. Clinical Laboratory, the First Affiliated Hospital of Air Force Medical University, Xi'an, Shaanxi 710032, China. haoxkg@fmmu.edu.cn.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(7):755-758
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency.
METHODS:Following extraction of genomic DNA, all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants on protein function.
RESULTS:DNA sequencing showed that the proband carried a homozygous g.6753-6755delACA deletion (p.252delAsn) in exon 9 of the F12 gene, for which her father, mother and brother were heterozygous carriers. The same deletion was not found in her sister.
CONCLUSION:The homozygous p.252delAsn deletion probably underlies the hereditary FXII deficiency in this pedigree.
