Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene.
10.3760/cma.j.cn511374-20191111-00571
- Author:
Xiao YANG
1
;
Kuangyi SHU
;
Jie CHEN
;
Fanfan LI
;
Xiaoou WANG
;
Wei YANG
;
Yating YAO
;
Xinyi AI
;
Bi CHEN
;
Minghua JIANG
Author Information
1. Centre of Laboratory Medicine, the Second Affiliated Hospital of Wenzhou Medical University, Yuying Children's Hospital, Wenzhou, Zhejiang 325027, China.minghua93@126.com.
- Publication Type:Journal Article
- MeSH:
Antithrombin III/genetics*;
Antithrombin III Deficiency/genetics*;
DNA Mutational Analysis;
Genetic Testing;
Heterozygote;
Humans;
Male;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2020;37(11):1250-1252
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the phenotype and genotype of a patient affected with inherited antithrombin deficiency.
METHODS:All exons and exon-intron boundaries of the AT genes were subjected to PCR amplification and Sanger sequencing. The influence of variants on the disease was predicted using bioinformatic software (MutationTaster).
RESULTS:The results of all coagulation tests were normal, though the antithrombin activity and antigen content of the proband and his father have decreased significantly (34%, 48% and 12.97 mg/dL, 15.60 mg/dL, respectively). His mother was normal. Genetic analysis revealed that the proband and his father both carried a heterozygous g.2736dupT variant of the AT gene. Bioinformatic analysis suggested that the variant may be pathogenic.
CONCLUSION:The proband and his father both had type I hereditary antithrombin deficiency caused by a g.2736dupT variant of the AT gene. The variant was unreported previously.
