Exclusion of linkage between RET and Neuronal Intestinal Dysplasia type B
- Instituto G. Gaslini, Genova (Italy)
- Children`s Hospital, Luzern (Switzerland)
- Columbia Univ., New York, NY (United States)
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 diseases (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 analysed. Further genetic analyses will possibility improve the understanding of the cause and facilitate diagnostic procedures in NID B. 20 refs., 1 fig., 2 tabs.
- OSTI ID:
- 391069
- Journal Information:
- American Journal of Medical Genetics, Vol. 62, Issue 2; Other Information: PBD: 15 Mar 1996
- Country of Publication:
- United States
- Language:
- English
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