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Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

  June, 7 2006 12:33
your information resource in human molecular genetics
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.

Author Contact:

Cécile Julier
Institut Pasteur, Génétique des Maladies Infectieuses et Autoimmunes, 75015 Paris, France.
E-mail: cjulier@pasteur.fr

Abstract available online.

(C) Nature Genetics.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

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