Editorial
Copyright ©2011 Baishideng Publishing Group Co.
World J Gastroenterol. Dec 7, 2011; 17(45): 4937-4944
Published online Dec 7, 2011. doi: 10.3748/wjg.v17.i45.4937
Table 1 Genes associated with Hirschsprung's disease
LocusGeneAssociated syndromeIncidencePenetranceInheritanceRef.
10q11RETNon-syndromic HSCR50% familial70% maleDominant82-84
30% sporadic50% female
5p13GDNFNon-syndromic HSCR5 casesLowDominant85-89
13q22EDNRBShah-Waardenburg5%LowDominant or recessive44,90
Non-syndromic HSCR
20q13ET3Shah-Waardenburg1 caseN/ADominant or recessive91
Non-syndromic HSCR
1p36ECE1Cardiac and autonomic nervous system defects with HSCR1 caseN/ADominant40
22q13SOX10Shah-Waardenburg> 5%~80%Dominant47,49,50,92
Non-syndromic HSCR
2q22ZFHX1BMowat-Wilson< 5%60%Dominant62,93-95
4p12PHOX2BCCHS–Ondines Curse< 5%20%Dominant96
19p13NTNNon-syndromic HSCR1 caseDominant97
18q21TCF4Epileptic encephalopathy1 caseDominant98
10q21.1KIAA1279Goldberg-ShprintzenRareRecessive21