MUTATED EUKARIOTIC TRANSLATION INITIATION FACTOR 2 ALPHA KINASE 3, EIF2AK3, IN PATIENTS WITH NEONATAL INSULIN-DEPENDENT DIABETES AND MULTIPLE EPIPHYSEAL DYSPLASIA (WOLCOTT-RALLISON SYNDROME)

摘要

The present invention is directed to isolated variant nucleic sequence of genomic sequence encoding the translation initiation factor 2 alpha kinase 3 (EIF2AK3) capable of inducing the Wolcott-Rallison syndrome (WRS) or affecting the risk of developing diabetes and/or other pathology related to WRS, and to the polypeptide encoded by these sequences. The invention also relates to vectors or transformned cells containing these sequences. The present invention further concerns method and kit for determining in a subject the risk of developing diabetes and/or other pathology related to WRS and method for selecting compound which can be used as medicament for the prevention and/or treatment of these pathologies.