RT Journal Article
SR Electronic
T1 Investigation of germline GFRα-1 mutations in Hirschsprung disease
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 217
OP 220
DO 10.1136/jmg.36.3.217
VO 36
IS 3
A1 Shirley M Myers
A1 Remi Salomon
A1 Antje Goessling
A1 Anna Pelet
A1 Charis Eng
A1 Andreas von Deimling
A1 Stanislas Lyonnet
A1 Lois M Mulligan
YR 1999
UL http://jmg.bmj.com/content/36/3/217.abstract
AB Inactivating mutations of the RET proto-oncogene and of one of its soluble ligand molecules, glial cell line derived neurotrophic factor (GDNF), have been found in a subset of patients with Hirschsprung disease (HSCR). However, the majority of HSCR mutations remain unidentified. As normal RET function requires a multicomponent ligand complex for activation, other members of the RET ligand complex are primary candidates for these mutations. We investigated the presence of mutations in another member of the RET signalling complex, GDNF family receptor alpha-1 (GFRα-1), in a panel of 269 independent cases of HSCR. We identified 10 polymorphisms at the GFRα-1 locus. Surprisingly, however, we did not identify any sequence variants in our HSCR population that were not also present in a normal control population. Our data suggest that mutations of the GFRα-1 gene are not a common aetiological event in HSCR.