Article
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
Nature genetics - 1 Jun 2006
Senée Valérie, Chelala Claude, Duchatelet Sabine, Feng Daorong, Blanc Hervé, Cossec Jack-Christophe, Charon Céline, Nicolino Marc, Boileau Pascal, Cavener Douglas R, Bougnères Pierre, Taha Doris, Julier Cécile
Abstract excerpt
We recently described a new neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. Here, we show that this syndrome results from mutations in GLIS3, encoding GLI similar 3, a recently identified transcription factor. In the original family, we identified a frameshift mutation predicted to result in a truncated protein. In two other...
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