Gene: CDKN1C

Alternate names for this Gene: BWCR|BWS|KIP2|WBS|p57|p57Kip2

Gene Summary: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: cyclin dependent kinase inhibitor 1C

Type of Gene: protein-coding

rs104894200 in CDKN1C gene and Beckwith-Wiedemann Syndrome PMID 9341892 1997 New p57KIP2 mutations in Beckwith-Wiedemann syndrome.

PMID 26077438 2015 Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

PMID 10424811 1999 Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

rs318240750 in CDKN1C gene and Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies PMID 22634751 2012 Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

PMID 24098681 2013 Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.

PMID 25614875 2014 The condition in this patient, IMAGe syndrome, is likely caused by the heterozygous mutation c.832A>G (p.Lys278Glu) in the imprinted gene CDKN1C.

PMID 24098681 2013 We identified a novel heterozygous mutation, c.815T>G (p.Ile272Ser), in the CDKN1C gene in three siblings manifesting clinical symptoms associated with IMAGe syndrome and their mother (unaffected carrier).

PMID 25057881 2014 A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.