title: [Gene analysis of a combined inherited factor VII and factor X deficiency pedigree].
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Diagnosis Center of Clinical Laboratory, the First Hospital Affiliated to Wenzhou Medical College, Wenzhou 325000, China.
authors.forename: Ming-shan
authors.initials: MS
authors.lastname: Wang
authors.forename: Yan-hui
authors.initials: YH
authors.lastname: Jin
authors.forename: Fang-xiu
authors.initials: FX
authors.lastname: Zheng
authors.forename: Hai-xiao
authors.initials: HX
authors.lastname: Xie
authors.forename: Peng-fei
authors.initials: PF
authors.lastname: Xu
authors.forename: Zhen-zhen
authors.initials: ZZ
authors.lastname: Niu
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics; D005168:Factor VII Deficiency / Q000150:complications / Q000235:genetics*; D005171:Factor X Deficiency / Q000150:complications / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D005167:Factor VII