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An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease.

ABSTRACT: 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.

SUBMITTER: Dias RP

PROVIDER: S-EPMC3580416 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease.

Dias Renuka P RP Maher Eamonn R ER

Genome medicine 20120730 7

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 ef ...[more]

PMID: 22839767

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