title: Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
abstract: BACKGROUND
  Endothelin-B receptor (EDNRB) signaling pathway is associated for Hirschsprung disease (HSCR). The aim of this study was to investigate the EDNRB gene mutation in patients with HSCR in Taiwan and correlate the genotype and phenotype.
  
  
  METHODS
  Using polymerase chain reaction amplification and direct sequencing, we screened for mutations in the coding regions and intron/exon boundaries of the EDNRB gene in 39 isolated HSCR cases and compared them with those in 400 control chromosomes.
  
  
  RESULTS
  In 3 cases, heterozygous variations in exon 1 and 2 of the EDNRB gene predicted missense mutations of the first cytosolic (M132I), second transmembrane (I157V), second exoplasmic (M173T), and third transmembrane (V185M) domains of the EDNRB protein. Three of the 4 mutations in our study have not been reported previously. For total 39 unrelated cases, the mutation rates were estimated to be 10% (3 of 30) for short-segment HSCR and 7.7% (3 of 39) for all HSCR cases.
  
  
  CONCLUSIONS
  We did not detect a significant genotype-phenotype correlation. In conclusion, this study identified 4 mutations within the EDNRB gene associated with HSCR. Because HSCR is a multifactorial and multigene disorder, the higher mutation rate of 10% for short-segment HSCR suggests the important role that the EDNRB gene plays in the pathogenesis of short-segment HSCR in Taiwan.
authors.affiliation: Department of Pediatrics, Far Eastern Memorial Hospital, Taiwan.
authors.forename: Yu-Cheng
authors.initials: YC
authors.lastname: Lin
authors.forename: Hong-Shiee
authors.initials: HS
authors.lastname: Lai
authors.forename: Wen-Ming
authors.initials: WM
authors.lastname: Hsu
authors.forename: Ping-Ing
authors.initials: PI
authors.lastname: Lee
authors.forename: Huey-Ling
authors.initials: HL
authors.lastname: Chen
authors.forename: Mei-Hwei
authors.initials: MH
authors.lastname: Chang
mesh_terms: D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D044023:Receptor, Endothelin B / Q000235:genetics*; D013624:Taiwan
chemical_list: D044023:Receptor, Endothelin B; D004247:DNA