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Letter

Nature Genetics 38, 682–687 (1 June 2006) | doi:10.1038/ng1802

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

Val|[eacute]|rie Sen|[eacute]|e , Claude Chelala , Sabine Duchatelet , Daorong Feng , Herv|[eacute]| Blanc , Jack-Christophe Cossec , C|[eacute]|line Charon , Marc Nicolino , Pascal Boileau , Douglas R Cavener , Pierre Bougn|[egrave]|res , Doris Taha & C|[eacute]|cile Julier

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.