title: [Early genetic diagnosis in patients with HHT induced severe nosebleed].
abstract: OBJECTIVE
  To study the early gene diagnosis of hereditary hemorrhagic telangiectasia (HHT) induced severe nosebleed.
  
  
  METHODS
  Clinical features of 23 family members in two HHT pedigrees were examined. Genomic DNA was extracted from peripheral blood samples. PCR amplification was conducted to screen ENG and ACVRL-1 genes with their specific primers. Direct sequencing was performed to detect the mutation. Mutation analysis was carried out to evaluate its significance.
  
  
  RESULTS
  A heterozygous c. 263A > G mutation was identified in exon 3 of ACVRL-1 in 6 out of 11 members in NMG-1 pedigree. In GD-2 pedigree, 5 of 11 members carried c. 199C > G mutation. Mutation detection rate was 100% in subjects with nosebleed history and 25% in family members without epistaxis.
  
  
  CONCLUSIONS
  Gene diagnosis characterized by high sensitivity and specificity is of great practi-cal significance and early genetic screening should be a clinical routine test for HHT induced severe nosebleed.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing,100853, China.
authors.forename: Lingchao
authors.initials: L
authors.lastname: Ji
authors.forename: Zhixin
authors.initials: Z
authors.lastname: Wang
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Jingjie
authors.initials: J
authors.lastname: Jia
authors.forename: Shaohua
authors.initials: S
authors.lastname: You
authors.forename: Yin
authors.initials: Y
authors.lastname: Bai
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhou
authors.forename: Suping
authors.initials: S
authors.lastname: Zhao
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhou
authors.forename: Gehua
authors.initials: G
authors.lastname: Zhang
authors.forename: Hongtian
authors.initials: H
authors.lastname: Wang
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D004252:DNA Mutational Analysis; D000071063:Endoglin; D004844:Epistaxis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II