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

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 overg...

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Bibliographic Details
Published in:Genome medicine 2012-07, Vol.4 (7), p.60-60
Main Authors: Dias, Renuka P, Maher, Eamonn R
Format: Article
Language:English
Subjects:
Beckwith-Wiedemann syndrome
Cancer
cyclin-dependent kinase inhibitors
Genomic analysis
Growth rate
Missense mutation
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Summary: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.
ISSN:1756-994X
1756-994X
DOI:10.1186/gm361