A Novel Variant in<i>CDKN1C</i>Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

Abstract

We report a novel CDKN1C mutation associated with features of IMAGe syndrome, but without adrenal insufficiency or metaphyseal dysplasia, and characterized by early-adulthood-onset diabetes. Our data expand the range of phenotypes observed with CDKN1C defects and suggest that CDKN1C mutations may represent a novel monogenic form of diabetes.