Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

Alan Shanske, Jose C. Ferreira, Jay C. Leonard, Peter Fuller, Robert W. Marion

Research output: Contribution to journalArticle

31 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)231-236
Number of pages6
JournalAmerican journal of medical genetics
Volume102
Issue number3
DOIs
Publication statusPublished - Aug 15 2001

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Keywords

  • Chromosome deletion
  • Del(13)(q14.3q22.2)
  • EDN-3
  • EDNRB
  • Hirschsprung disease
  • RET
  • SOX10
  • Waardenburg syndrome
  • Waardenburg-Shah syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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