Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G).
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.
Pruthi
Rajiv K
RK
Special Coagulation Laboratory, Mayo Clinic, Rochester, MN 55905, USA. pruthi.rajiv@mayo.edu
Rodriguez
Vilmarie
V
Allen
Cory
C
Slaby
Jeffrey A
JA
Schmidt
Kirstin A
KA
Plumhoff
Elizabeth A
EA
D019943:Amino Acid Substitution / Q000276:immunology; D019774:Blood Coagulation Factor Inhibitors / Q000276:immunology; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics* / Q000276:immunology; D005168:Factor VII Deficiency / Q000235:genetics* / Q000276:immunology; D006470:Hemorrhage / Q000235:genetics / Q000276:immunology; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense / Q000276:immunology; D010641:Phenotype; D012720:Severity of Illness Index
D019774:Blood Coagulation Factor Inhibitors; D005167:Factor VII