title: Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
abstract: Hirschsprung disease is a developmental disorder resulting from the arrest of the craniocaudal migration of enteric neurons from the neural crest along gastrointestinal segments of variable length; see Behrman [Nelson textbook of pediatrics, 1992:954-956]. It is a heterogeneous disorder in which familial cases map to at least three loci whose function is necessary for normal neural crest-derived cell development. Homozygous mutations in the endothelin-B receptor gene (EDNRB) on 13q22 have been identified in humans and mice with Hirschsprung disease type 2 (HSCR2). The auditory pigmentary disorder, Waardenburg-Shah syndrome, comprises Waardenburg syndrome and Hirschsprung disease and has also been mapped to the EDNRB locus. Hirschsprung disease, malrotation, isochromia, a profound sensorineural hearing loss, and several other anomalies were found in an infant with an interstitial deletion of 13q, suggesting the existence of a contiguous gene syndrome involving developmental genes necessary for the normal growth of the neural crest derivatives of the eye, inner ear, and colon. We report on an additional patient with a deletion in 13q and Hirschsprung disease. Congenital anomalies associated with deletions of the distal long arm of chromosome 13 are sufficiently consistent to suggest a clinical syndrome.
authors.affiliation: Children's Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA. AShanske@aol.com
authors.forename: A
authors.initials: A
authors.lastname: Shanske
authors.forename: J C
authors.initials: JC
authors.lastname: Ferreira
authors.forename: J C
authors.initials: JC
authors.lastname: Leonard
authors.forename: P
authors.initials: P
authors.lastname: Fuller
authors.forename: R W
authors.initials: RW
authors.lastname: Marion
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009693:Nucleic Acid Hybridization