Condition: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies


rs318240750 in CDKN1C gene and Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies PMID 22634751 2012 Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

PMID 24098681 2013 Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.

PMID 25614875 2014 The condition in this patient, IMAGe syndrome, is likely caused by the heterozygous mutation c.832A>G (p.Lys278Glu) in the imprinted gene CDKN1C.

PMID 24098681 2013 We identified a novel heterozygous mutation, c.815T>G (p.Ile272Ser), in the CDKN1C gene in three siblings manifesting clinical symptoms associated with IMAGe syndrome and their mother (unaffected carrier).

PMID 25057881 2014 A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.