title: Exclusion of linkage between RET and neuronal intestinal dysplasia type B.
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.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G, Gaslini, Genova, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Barone
authors.forename: D
authors.initials: D
authors.lastname: Weber
authors.forename: Y
authors.initials: Y
authors.lastname: Luo
authors.forename: V
authors.initials: V
authors.lastname: Brancolini
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D029721:Drosophila Proteins; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007410:Intestinal Diseases / Q000235:genetics*; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila