In a paper authored by Valérie Senée, Claude Chelala, Sabine Duchatelet, et al., and published in Nature Genetics (Vol. 38, pp. 682-687), a new neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys, is decribed. It is shown that this syndrome results from mutations in GLIS3, encoding GLI similar 3, a recently identified transcription factor.
These results demonstrate a major role for GLIS3 in the development of pancreatic cells and the thyroid, eye, liver and kidney.
Institut Pasteur, Génétique des Maladies Infectieuses et Autoimmunes, 75015 Paris, France.
Abstract available online.
(C) Nature Genetics.
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