title: [Hereditary hemorrhagic telangiectasia caused by mutation in intron 4 of ALK1 gene: analysis of a HTT family].
abstract: OBJECTIVE
  To investigate the molecular pathogenesis of hereditary hemorrhagic telangiectasia (HHT).
  
  
  METHODS
  Peripheral blood samples were collected from a HTT family, including the proband, female, aged 48, and her mother, elder brother, elder sister, younger brother, and son. HHT gene mutations were identified by PCR-SSCP and DNA sequencing and confirmed by reverse sequencing. Ectopic transcripts of RT-PCR were used to confirm the characteristics of the mutation in non-canonical splicing site (IV S4 + 3 a > t).
  
  
  RESULTS
  A mutational segment of PCR product of exon 4, exon-intron boundaries and the 3', 5' untranslated sequence of ALK1 gene was identified by PCR-SSCP. The mutational segment was analyzed by DNA sequencing. An IV S4 + 3 a > t mutation was found, causing splicing abnormality of intron 4 and exon 3 skipping.
  
  
  CONCLUSIONS
  A splicing pattern of the IV S4 + 3 a > t mutation has been reported among Chinese HHT2 patients for the first time.
authors.affiliation: Department of Hematology, Beijing Friendship Hospital Affiliate to Capital University of Medical Sciences, Beijing 100050, China.
authors.forename: Gui-lan
authors.initials: GL
authors.lastname: Xie
authors.forename: Zhi-xiang
authors.initials: ZX
authors.lastname: Li
authors.forename: Zhe-xian
authors.initials: ZX
authors.lastname: Li
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D015703:Antigens, CD / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D000071063:Endoglin; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D030301:Activin Receptors, Type II