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Letter

Nature Genetics 14, 345–347 (1 November 1996) | doi:10.1038/ng1196-345

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

R|[eacute]|mi Salomon , Tania Atti|[eacute]| , Anna Pelet , Christelle Bidaud , Charis Eng , Jeanne Amiel , Sabine Sarnacki , Olivier Goulet , Claude Ricour , Claire Nihoul-F|[eacute]|k|[eacute]|t|[eacute]| , Arnold Munnich & Stanislas Lyonnet

Hirschsprung disease (HSCR, aganglionic megacolon) is a common congenital malformation leading to bowel obstruction, with an incidence of 1/5,000 live births. It is characterized by the absence of intrinsic ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract1.