Article
A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum.
BMC medical genomics - 26 Mar 2026
Wu Shanshan, Zhang Yanan, Zhang Huifeng, Yan Xue, Pi Yalei
Abstract excerpt
BACKGROUND: Cyclin-dependent kinase inhibitor 1 C (CDKN1C), encoding the p57KIP2 protein, serves as a critical negative regulator of cellular proliferation. Loss-of-function mutations in CDKN1C are responsible for 5–8% of sporadic and 40% of familial Beckwith-Wiedemann syndrome (BWS) cases, with 133 variants catalogued in the Human Gene Mutation Database (HGMD). We herein report a novel CDKN1C variant in a...
Topics
- Humans
- Beckwith-Wiedemann Syndrome
- Cyclin-Dependent Kinase Inhibitor p57
- Female
- Genetic Association Studies
- Infant, Newborn
- Phenotype
- Pedigree
- DNA Methylation