syndromic Hirschsprung disease
Etiology
Epistatic interactions with a common hypomorphic RET allele hase been found in syndromic Hirschsprung disease
About 30% of HSCR are syndromic. The disease causing gene has been identified for eight Mendelian syndromes with HSCR:
congenital central hypoventilation syndrome (CCHS)
Mowat-Wilson syndrome (MWS)
Bardet-Biedl syndrome (BBS)
Shah-Waardenburg syndrome (WS4)
cartilage-hair-hypoplasia syndrome (CHH)
Smith-Lemli-Opitz syndrome (SLO)
Goldberg-Sprintzsen syndrome (GSS)
hydrocephalus due to congenital stenosis of the aqueduct of sylvius (HSAS).
According to the HSCR syndrome, the penetrance of HSCR trait varies from 5 to 70%. Trisomy 21 (T21) also predisposes to HSCR.
See also
- isolated Hirschsprung disease
- syndromic Hirschsprung disease
References
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008 Jan;45(1):1-14. PMID: 17965226
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Hum Mutat. 2007 Aug;28(8):790-6. PMID: 17397038