title: Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome.
abstract: OBJECTIVE
  Patients with zinc finger homeo box 1B (ZFHX1B) mutations or deletions develop multiple congenital anomalies including Hirschsprung disease, known as Mowat-Wilson syndrome (MWS). In this study, we investigated variations in the enteric neural plexus abnormalities in MWS using morphometry-based histopathologic analysis.
  
  
  METHODS
  Seven patients with MWS (3 with mutations in exon 8 of ZFHX1B and 4 with deletions) who had undergone modified Duhamel's operations for Hirschsprung disease were examined. Surgically resected rectosigmoid specimens were analyzed morphometrically.
  
  
  RESULTS
  The length of the aganglionic segment was longer than 3 cm in all the patients with deletions. In 3 patients with mutations, the aganglionic region was not detected in the surgically resected specimens; however, the parameters of the ganglions and plexus were significantly smaller than those of controls (cloaca and aproctia), indicative of a transitional zone. Variation in the severity of pathological changes among the 3 patients with mutations was also noted.
  
  
  CONCLUSIONS
  The variations in myenteric plexus pathologies in MWS appear to be caused by both variations in ZFHX1B abnormalities and epigenetic factors.
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Ishihara
authors.forename: Atsuyoshi
authors.initials: A
authors.lastname: Shimada
authors.forename: Junji
authors.initials: J
authors.lastname: Kato
authors.forename: Norihiro
authors.initials: N
authors.lastname: Niimi
authors.forename: Shuichi
authors.initials: S
authors.lastname: Tanaka
authors.forename: Kiyokuni
authors.initials: K
authors.lastname: Miura
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Suzuki
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nagaya
mesh_terms: D000886:Anthropometry; D002675:Child, Preschool; D012809:Colon, Sigmoid / Q000294:innervation* / Q000473:pathology; D005260:Female; D006627:Hirschsprung Disease / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D012007:Rectum / Q000294:innervation* / Q000473:pathology; D012097:Repressor Proteins / Q000235:genetics; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2