Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases

Shirin Ravanbod,Mohammad Faranoush,Majid Changi-Ashtiani,Hassan Rokni-Zadeh,Tina Shahani

Research and Practice in Thrombosis and Haemostasis（2023）

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摘要

•Coagulation factor VII (FVII) mutations but not plasma levels predict phenotypic severity in FVII deficiency.•105 individuals from 62 independent pedigrees of various ethnicities are genetically analyzed.•11 novel mutations in addition to 19 previously reported pathogenic variants are identified.•The novel c.790 del C mutation is introduced as an Iranian factor VII variant.

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关键词

bleeding,coagulation Factor VII,FVII inhibitor,FVII phenotype,founder effect,novel mutation,intracranial hemorrhage,Exome sequencing

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