Inoue M, Okada A
Department of Pediatric Surgery, Osaka University Medical School.
Nihon Rinsho. 1998 Jan;56(1):249-57.
Hirschsprung disease (HSCR) is a congenital malformation caused by the absence of ganglion cells in the myenteric and submucosal plexuses of the gut. Recent studies have shown that mutations in the RET, glial-cell-derived neurotrophic factor (GDNF), endothelin-B receptor (EDNRB), endothelin-3 genes are responsible for the occurrence of aganglionosis. Those genes are involved in the development of neural crest derivatives. The RET gene mutation are found in 50% of familial cases and 15% of sporadic cases. The mutations in other genes were found under 10%. In addition to such a low detection rate of the mutations, incomplete penetrance of the mutation was found in all four genes. Those results support multifactorial or polygenic feature of Hirschsprung disease. The additional candidate genes responsible for this disease will be identified along the signaling pathway through RET and EDNRB.
先天性巨结肠（HSCR）是一种先天性畸形，由肠道肌间神经丛和黏膜下神经丛中神经节细胞缺失所致。最近的研究表明，RET、胶质细胞源性神经营养因子（GDNF）、内皮素B受体（EDNRB）、内皮素3基因的突变是导致无神经节细胞症的原因。这些基因参与神经嵴衍生物的发育。50%的家族性病例和15%的散发性病例中发现有RET基因突变。其他基因的突变率低于10%。除了这些突变的低检出率外，在所有这四个基因中均发现了突变的不完全外显率。这些结果支持先天性巨结肠的多因素或多基因特征。沿着通过RET和EDNRB的信号通路，将鉴定出导致这种疾病的其他候选基因。
