title: [Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene].
abstract: OBJECTIVE
  To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.
  
  
  METHODS
  Genomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing.
  
  
  RESULTS
  The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.
  
  
  CONCLUSIONS
  The hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.
authors.affiliation: Wenzhou 3rd People's Hospital, Wenzhou 325000, China.
authors.forename: Bing-shou
authors.initials: BS
authors.lastname: Xie
authors.forename: Shuang
authors.initials: S
authors.lastname: Xie
authors.forename: Ping
authors.initials: P
authors.lastname: Chen
authors.forename: Miao-yong
authors.initials: MY
authors.lastname: Zhu
authors.forename: Jia-yong
authors.initials: JY
authors.lastname: Zheng
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Rong-fu
authors.initials: RF
authors.lastname: Zhou
authors.forename: Wen-bin
authors.initials: WB
authors.lastname: Wang
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Li-ming
authors.initials: LM
authors.lastname: Hu
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D000368:Aged; D015703:Antigens, CD / Q000235:genetics; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics* / Q000473:pathology
chemical_list: D015703:Antigens, CD; D018389:Codon, Nonsense; D011956:Receptors, Cell Surface; D030301:Activin Receptors, Type II