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Table 1 Human inherited disorders associated with abnormal CDKN1C function

From: An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease

  IMAGe syndrome (MIM 300290) Silver-Russell syndrome (MIM 180860) Beckwith-Wiedemann syndrome (MIM 130650)
Main clinical features Intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies Intra-uterine growth restriction, relative macrocephaly, triangular shaped face, hemihypoplasia, Pre and/or postnatal overgrowth, macroglossia, anterior abdominal wall defects, neonatal hypoglycemia, hemihypertrophy, predisposition to embryonal tumors
CDKN1C abnormalities Missense mutations in the PCNA-binding domain (maternal allele) Microduplication of CDKN1C (maternal allele) Loss-of-function CDKN1C mutations (maternal allele), epigenetic silencing by epimutations (loss of methylation) and mutations of the KvDMR1 imprinting control center (IC2) (maternal allele)
Other genetic causes - Epimutations (loss of methylation) of H19/IGF2 intergenic imprinting control center (IC1; paternal allele), maternal disomy chromosome 7 Epimutations (gain of methylation) and mutations H19/IGF2 intergenic imprinting control center (IC1) (maternal allele)