title: [Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].
abstract: OBJECTIVE
  To analyze clinical features of 4 families with hereditary hemorrhagic telangiectasia (HHT) and potential mutations of ENG, ACVRL1 and SMAD4 genes.
  
  
  METHODS
  Four unrelated HHT patients and their affected family members were analyzed. All exons and flanking regions of ENG, ACVRL1 and SMAD4 genes were analyzed with PCR and direct sequencing and multiplex ligation-dependent probe amplification (MLPA) methods.
  
  
  RESULTS
  Eleven patients from the 4 families were enrolled in this study. Two ENG and 1 ACVRL1 mutations were identified, among which an ENG mutation (c.207G>A; p.L69L) and an ACVRL1 mutation (c.817C>T; p.L273L) have been previously reported. In addition, a novel ENG mutation (c.1004A>T; p.Q335L) has been found in 3 different families. Similar mutations were not detected in 200 healthy individuals. No mutations of ENG, ACVRL1 and SMAD4 were found in the fourth family.
  
  
  CONCLUSIONS
  A novel mutation c.1004A>T (p. Q335L) of ENG has been identified in patients with HHT. And there is significant phenotypic variability and genetic heterogeneity with the disease.
authors.affiliation: School of Clinical Medicine, West China Hospital, Sichuan University, Chengdu, P.R. China.
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.forename: Yin-xia
authors.initials: YX
authors.lastname: Lv
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Yang
authors.forename: Yan-hua
authors.initials: YH
authors.lastname: Huang
authors.forename: Yi
authors.initials: Y
authors.lastname: Luo
authors.forename: Qun
authors.initials: Q
authors.lastname: Yi
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D015703:Antigens, CD / Q000235:genetics; D000071063:Endoglin; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D051901:Smad4 Protein / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C497796:SMAD4 protein, human; D051901:Smad4 Protein; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II