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.
Highlights
Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome)
Most rare diseases are inherited, and advances in genomic technologies are rapidly increasing our knowledge of their genetic basis and the pathways that regulate key cellular processes. e exquisite phenotyping of human diseases is enabling intriguing genotype-phenotype relationships to be uncovered, as exemplified by a recent report by Arboleda et al in Nature Genetics [1] on the role of cyclin-dependent kinase inhibitor 1C (CDKN1C, p57Kip2) mutations in the growth retardation syndrome IMAGe and the overgrowth syndrome Beckwith-Wiedemann syndrome (BWS) [2]
In contrast to the restricted type and location of CDKN1C mutations in IMAGe syndrome, those in BWS-associated CDKN1C are most often truncating mutations distributed throughout the gene, or missense mutations in the aminoterminal CDK inhibitor domain, suggesting that the mutations causing IMAGe syndrome and BWS have different functional effects [1]
Summary
Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). E exquisite phenotyping of human diseases is enabling intriguing genotype-phenotype relationships to be uncovered, as exemplified by a recent report by Arboleda et al in Nature Genetics [1] on the role of cyclin-dependent kinase inhibitor 1C (CDKN1C, p57Kip2) mutations in the growth retardation syndrome IMAGe and the overgrowth syndrome Beckwith-Wiedemann syndrome (BWS) [2].
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