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 language | English (US) |
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Pages (from-to) | 231-236 |
Number of pages | 6 |
Journal | American journal of medical genetics |
Volume | 102 |
Issue number | 3 |
DOIs | |
State | Published - Aug 15 2001 |
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)