title: Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations.
abstract: Chronic idiopathic slow-transit constipation (ISTC) and idiopathic megacolon (IMC) are early-onset gastrointestinal motility disorders of unknown aetiology. The gene encoding the neurotrophic factor neurturin may be a candidate for these disorders, as neurturin-deficient mice have a similar enteric phenotype. In the present study, we tested this hypothesis. Genomic DNA from 26 cases of chronic idiopathic STC [with a family history of constipation in 15 (58%) and Hirschsprung's disease in two (8%)], and five cases of IMC [two familial (40%)] was screened by direct DNA sequencing using the fluorescent dideoxy terminator method. Results were compared with published sequence data and 24 control DNAs. Our results revealed several previously unreported common sequence polymorphisms, but overall frequencies were comparable between patients and controls. We conclude that mutation of neurturin is not a frequent cause of ISTC or IMC.
mesh_terms: D000328:Adult; D003248:Constipation / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D008531:Megacolon / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009414:Nerve Growth Factors / Q000235:genetics*; D051101:Neurturin
chemical_list: C495053:NRTN protein, human; D009414:Nerve Growth Factors; D051101:Neurturin