title: [Double heterozygous mutations of non-canonical splice (IVS1a + 5g > a) and His348Gln caused inherited coagulation factor VII deficiency].
abstract: OBJECTIVE
  To investigate the pathogenesis of inherited coagulation factor VII (FVII) deficiency.
  
  
  METHODS
  The diagnosis was validated by coagulant parameter assay. FVII gene mutations were analysed in the proband by DNA direct sequencing of PCR products of all exons, exon-intron boundaries and the 3', 5'untranslated sequences. The mutations were confirmed by reverse sequencing. The ectopic transcripts of RT-PCR were used to confirm the characteristics of the mutation in non-canonical splice site (IVS1a + 5g > a).
  
  
  RESULTS
  Double heterozygous mutations in the propositus were identified: a T to G mutation at position 10961, resulting in His348Gln substitution, a non-canonical splice site (IVS1a + 5g > a) mutation, causing the new model of splice and frameshift mutation.
  
  
  CONCLUSIONS
  Double heterozygous mutations of His348Gln and IVS1a + 5g > a were identified in a propositus, the splicing pattern of the IVS1a + 5g > a mutation was reported for the first time.
authors.affiliation: Shanghai Institute of Haematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Qiu-Lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Wang
authors.forename: Xue-Feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Ming-Shan
authors.initials: MS
authors.lastname: Wang
authors.forename: Qi-Hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Wen-Man
authors.initials: WM
authors.lastname: Wu
authors.forename: Yi-Qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Zhen-Yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D012326:RNA Splicing
chemical_list: D005167:Factor VII