[Gene analysis of a combined inherited factor VII and factor X deficiency pedigree]

Zhonghua Xue Ye Xue Za Zhi. 2011 Dec;32(12):854-7.
[Article in Chinese]

Abstract

Objective: To perform gene analysis and family survey of a patient with combined inherited FVII and FX deficiency, and to identify the gene mutation of this patient.

Methods: The phenotype diagnosis was validated by coagulant parameter assay on prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII and FX activity (FVII:C, FX:C) and FVII and FX antigen (FVII:Ag, FX:Ag). FVII and FX gene mutations were analyzed in the proband and other family members by DNA direct sequencing of all exons, exon-intron boundaries and 5', 3' untranslated sequences. One hundred and six health examination participants were selected as control.

Results: The values of PT and APTT of the proband showed significantly prolonged, which were 84.5s and 63.4s, respectively. The levels of FVII:C, FVII:Ag, FX:C and FX:Ag were 6%, 7%, 4% and 30%, respectively. The PT of his father, mother and sister was prolonged slightly while both APTT and FVII:Ag were in the normal range. Two homozygous mutations, g.11267C→T in exon 8 of FVII gene resulting in the substitution of Arg277Cys and g.28139G→T in exon 8 of FX gene leading to the substitution of Val384Phe, were identified in the proband. The proband's parents and sister were heterozygous for Arg277Cys and Val384Phe mutations.

Conclusion: Homozygous mutation Arg277Cys in FVII gene and Val384Phe in FX gene were the molecular mechanism causing combined inherited FVII and FX deficiency. The Val384Phe substitution was a novel mutation, which may affect the synthesis or secretion of FX protein.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Factor VII / genetics
  • Factor VII Deficiency / complications
  • Factor VII Deficiency / genetics*
  • Factor X Deficiency / complications
  • Factor X Deficiency / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Young Adult

Substances

  • Factor VII