CDKN1C mutations: two sides of the same coin

Highlights • Opposed functional mutations in CDKN1C cause opposite clinical features. • Loss-of-function mutations cause overgrowth. • Gain-of-function mutations in the PCNA domain result in growth restriction. • Only maternally inherited mutations in CDKN1C are associated with disturbed growth....

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Veröffentlicht in:	Trends in molecular medicine 2014-11, Vol.20 (11), p.614-622
Hauptverfasser:	Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Insufficiency - diagnosis Adrenal Insufficiency - genetics Animals Beckwith-Wiedemann Syndrome - diagnosis Beckwith-Wiedemann Syndrome - genetics Beckwith–Wiedemann syndrome CDKN1C Chromosome Aberrations Chromosomes, Human, Pair 11 Cyclin-Dependent Kinase Inhibitor p57 - genetics Disease Management Fetal Growth Retardation - diagnosis Fetal Growth Retardation - genetics Genetic Association Studies Genetic Counseling Genomic Imprinting Humans IMAGE syndrome imprinting Mutation Osteochondrodysplasias - diagnosis Osteochondrodysplasias - genetics Pathology point mutations Silver–Russell syndrome Urogenital Abnormalities - diagnosis Urogenital Abnormalities - genetics
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Zusammenfassung:	Highlights • Opposed functional mutations in CDKN1C cause opposite clinical features. • Loss-of-function mutations cause overgrowth. • Gain-of-function mutations in the PCNA domain result in growth restriction. • Only maternally inherited mutations in CDKN1C are associated with disturbed growth.
ISSN:	1471-4914 1471-499X
DOI:	10.1016/j.molmed.2014.09.001