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Article

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Nature genetics - 27 May 2012

Arboleda Valerie A, Lee Hane, Parnaik Rahul, Fleming Alice, Banerjee Abhik, Ferraz-de-Souza Bruno, Délot Emmanuèle C, Rodriguez-Fernandez Imilce A, Braslavsky Debora, Bergadá Ignacio, Dell'Angelica Esteban C, Nelson Stanley F, Martinez-Agosto Julian A, Achermann John C, Vilain Eric

Abstract excerpt

IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder with life-threatening consequences. An identity-by-descent analysis in a family with IMAGe syndrome identified a 17.2-Mb locus on chromosome 11p15 that segregated in the affected family members. Targeted exon array capture of the disease locus,...

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Identifiers

PMID: 22634751
DOI: 10.1038/ng.2275
PMCID: PMC3386373

Genes

PCNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.PMID 22634751Read ↗

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phaseSemantic proximity Read ↗

CDKN1C mutations: two sides of the same coin.Semantic proximity Read ↗

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.Semantic proximity Read ↗

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.Semantic proximity Read ↗

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.Semantic proximity Read ↗

Analysis of CDKN1C in fetal growth restriction and pregnancy lossSemantic proximity Read ↗

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.Semantic proximity Read ↗

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.Semantic proximity Read ↗

Analysis of CDKN1C in fetal growth restriction and pregnancy lossSemantic proximity Read ↗

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

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.Semantic proximity Read ↗

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.Semantic proximity Read ↗

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