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Article

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

Journal of medical genetics - 1 Dec 2013

Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M, Thibaud N, Faussat A-M, Tauber M, Le Bouc Y, Netchine I

Abstract excerpt

BACKGROUND: Russell Silver syndrome (RSS) leads to prenatal and postnatal growth retardation. About 55% of RSS patients present a loss-of-methylation of the paternal ICR1 domain on chromosome 11p15. CDKN1C is a cell proliferation inhibitor encoded by an imprinted gene in the 11p15 ICR2 domain. CDKN1C mutations lead to Beckwith Wiedemann syndrome (BWS, overgrowth syndrome) and in IMAGe syndrome which associates...

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PMID: 24065356
DOI: 10.1136/jmedgenet-2013-101691

Genes

PCNA

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