[Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1250-1252, 2020 Nov 10.
Article
em Zh
| MEDLINE
| ID: mdl-33179232
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Antitrombina III
/
Deficiência de Antitrombina III
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article