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
| Â | 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) |