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Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G)
Author(s) -
Pruthi Rajiv K.,
Rodriguez Vilmarie,
Allen Cory,
Slaby Jeffrey A.,
Schmidt Kirstin A.,
Plumhoff Elizabeth A.
Publication year - 2007
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2007.00916.x
Subject(s) - mutation , factor vii , medicine , gene mutation , mutation testing , gene , gastroenterology , immunology , genetics , biology , coagulation
Congenital factor VII (FVII) deficiency is an autosomal recessive bleeding disorder with variable phenotypic correlation between FVII activity and bleeding risk. We report a novel mutation of the FVII gene that creates the amino acid change Ser 103 to Gly, which resulted in severe FVII deficiency with reduced FVII antigen. This mutation in the heterozygous form was also present in a mildly affected, unrelated patient. We also report on the natural history of an FVII inhibitor in the patient with severe FVII deficiency.