CDKN1C mutations: two sides of the same coin

被引：77

作者：

Eggermann, Thomas ^{[1
]}

Binder, Gerhard ^{[2
]}

Brioude, Frederic ^{[3
]}

Maher, Eamonn R. ^{[4
,5
]}

Lapunzina, Pablo ^{[6
]}

Cubellis, Maria Vittoria ^{[7
]}

Bergada, Ignacio ^{[8
]}

Prawitt, Dirk ^{[9
]}

Begemann, Matthias ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, Aachen, Germany

[2] Univ Tubingen, Univ Childrens Hosp, Tubingen, Germany

[3] Hop Armand Trousseau, AP HP, Paris, France

[4] Univ Cambridge, Dept Med Genet, Cambridge, England

[5] NIHR Cambridge Biomed Res Ctr, Cambridge, England

[6] Hosp Univ La Paz, INGEMM, Inst Genet Med & Mol, IdiPAZ,CIBERER ISCIII, Madrid, Spain

[7] Univ Naples Federico II, Dipartimento Biol, Naples, Italy

[8] Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina

[9] Univ Med Mainz, Zentrum Kinder & Jugendmed, Mainz, Germany

来源：

TRENDS IN MOLECULAR MEDICINE | 2014年 / 20卷 / 11期

关键词：

CDKN1C; imprinting; IMAGE syndrome; Beckwith-Wiedemann syndrome; Silver-Russell syndrome; point mutations; BECKWITH-WIEDEMANN-SYNDROME; SILVER-RUSSELL-SYNDROME; DEPENDENT KINASE INHIBITOR; IMPRINTING CONTROL REGION; COPY NUMBER VARIATIONS; PCNA-BINDING DOMAIN; CHROMOSOME; 11P15; SYNDROME BWS; GENE-EXPRESSION; HUMAN P57(KIP2);

D O I：

10.1016/j.molmed.2014.09.001

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C gene (11p15.5) are associated with the overgrowth disorder Beckwith-Wiedemann syndrome (BWS). With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell syndrome (SRS), its key role for growth has been confirmed. Thereby, the last gap in the spectrum of molecular alterations in 11p15.5 in growth-retardation and overgrowth syndromes could be closed. Recent functional studies explain the strict association of CDKN1C mutations with clinically opposite phenotypes and thereby contribute to our understanding of the function and regulation of the gene in particular and epigenetic regulation in general.

引用

页码：614 / 622

页数：9

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