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 ofgenomic sequence encoding the translation initiation factor 2 alpha kinase 3(EIF2AK3) capable of inducing the Wolcott-Rallison syndrome (WRS) or affectingthe risk of developing diabetes and/or other pathology related to WRS, and tothe polypeptide encoded by these sequences. The invention also relates tovectors or transformed cells containing these sequences. The present inventionfurther concerns method and kit for determining in a subject the risk ofdeveloping diabetes and/or other pathology related to WRS and method forselecting compound which can be used as medicament for the prevention and/ortreatment of these pathologies.