Exclusion of linkage between RET and neuronal intestinal dysplasia type B

Virginia Barone1, Daniel Weber2, Yin Luo1, Valeria Brancolini3, Marcella Devoto3, Giovanni Romeo1*

1Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Genova, Italy
2Department of Pediatric Surgery, Children's Hospital, Luzern, Switzerland
3Department of Psychiatry, Columbia University, New York, New York
* Correspondence to Giovanni Romeo, Lab. Genetica Molecolare, Ist. G. Gaslini, L.go G. Gaslini 5, 16148 Genova, Italy

American Journal of Medical Genetics , 62(2), 195-198 (1996)

Abstract

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.