Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Eric Vilain and colleagues identify missense mutations in the imprinted gene CDKN1C , encoding the p57KIP2 cyclin dependent kinase inhibitor, in individuals with IMAGe syndrome. IMAGe syndrome is a developmental disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies.