An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
1 Centre for Rare Diseases and Personalized Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
2 Department of Endocrinology, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
3 West Midlands Regional Genetics Service, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK
Genome Medicine 2012, 4:60 doi:10.1186/gm361Published: 30 July 2012
Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth.