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© 1993 Oxford University Press

RESEARCH-ARTICLE

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

Yin Luo1, Isabella Ceccherini1, Barbara Pasini1, Ivana Matera1, M.Patrizia Bicocchi1, Virginia Barone1, Renata Bocclardi1, Helena Kääriänen2, Daniel Weber3, Marcella Devoto1,4 and Giovanni Romeo1,*

1Laboratory of Molecular Genetics, G Gaslini Institute 16148 Geneva, Quarto, Italy 2Department of Medical Genetics 00014 University of Helsinki, Finland 3Department of Surgery, Kantonales Hospital of Wolhusen 6110 Wolhusen, Switzerland 4Department of Psychiatry, Columbia University NY 10032, USA

*To whom correspondence should be addressed

Received August 5, 1993; Revised September 17, 1993; Accepted September 17, 1993

Tight linkage with the RET proto-oncogene (Zmax = 3.41 at {theta} = 0.00), analysis of recombinants and detection of a familial microdeletion in a large pedigree restrict the mapping of the Hirschsprung (HSCR) gene previously localized on proximal 10q. The molecular characterization of the familial microdeletion and of 3 additional cytogenetically visible de novo deletions, isolated in somatic cell hybrids, identify a smallest region of overlap of 250 Kb. This contains the RET proto-oncogene where missense mutations causing multiple endocrine neoplasia type 2A (MEN 2A) phenotype were recently found. The pentagastrin test (which detects preclinical forms of MEN 2A or B) is negative in adult HSCR patients with deletions of the RET gene. This represents a good candidate for the search of mutations causing HSCR.


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The RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2 and Hirschsprung's Disease
N. Engl. J. Med., September 26, 1996; 335(13): 943 - 951.
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