Barone V, Weber D, Luo Y, Brancolini V, Devoto M, Romeo G
Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Genova, Italy.
Am J Med Genet. 1996 Mar 15;62(2):195-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<195::AID-AJMG15>3.0.CO;2-J.
Neuronal Intestinal Dysplasia type B (NID B) is a complex alteration of the enteric nervous system belonging to the group of intestinal dysganglionoses which may involve rectum, colon, and small intestine. Second only to Hirschsprung disease (HSCR), NID B is one of the most frequent causes of chronic constipation and pseudo-obstructive intestinal dysmotility. Since NID B is often associated with HSCR and point mutations in the RET proto-oncogene have been identified in HSCR patients, we analyzed two NID B pedigrees to investigate if RET mutations might cause also the NID B phenotype. Linkage analysis demonstrated that the NID B locus is not linked to RET in the pedigrees analyzed. Further genetic analyses will possibly improve the understanding of the cause and facilitate diagnostic procedures in NID B.
