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Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review.

ABSTRACT:

Background

Congenital factor VII (FVII) deficiency is a rare inherited autosomal recessive disorder characterized by prolongation of prothrombin time and low FVII coagulation activity, which may increase the risk of bleeding.

Case presentation

A 66-year-old man with acute postoperative intracranial hemorrhage was transferred to our hospital owing to coagulation dysfunction. In coagulation tests, the FVII coagulation activity was less than 2%. Genetic analysis of the gene encoding FVII identified compound heterozygous mutations: c. 681+1 G>T and c. C1286T (p. Ala429Val).

Conclusions

To our knowledge, this is the first report describing the c. C1286T (p. Ala429Val) mutation in the FVII-encoding gene. We suggest that these mutations resulted in the reduced FVII activity and abnormal clotting in our patient after brain surgery.

SUBMITTER: Tang H

PROVIDER: S-EPMC9102670 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review.

Tang Hua H Luan Xingzhao X Li Jiaqi J Jiang Gen G Zhen Haowen H Li Hao H Xiang Wei W Zhou Jie J

Journal of clinical laboratory analysis 20220329 5

<h4>Background</h4>Congenital factor VII (FVII) deficiency is a rare inherited autosomal recessive disorder characterized by prolongation of prothrombin time and low FVII coagulation activity, which may increase the risk of bleeding.<h4>Case presentation</h4>A 66-year-old man with acute postoperative intracranial hemorrhage was transferred to our hospital owing to coagulation dysfunction. In coagulation tests, the FVII coagulation activity was less than 2%. Genetic analysis of the gene encoding ...[more]

PMID: 35349734

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