What Genetic Mechanisms Underlie Beckwith-Wiedemann Syndrome?
BWS is primarily caused by abnormalities in the chromosome 11 region 11p15.5, which affects the regulation of several growth-related genes. These abnormalities can include genomic imprinting errors, mutations, or duplications. The most commonly affected genes are IGF2 (insulin-like growth factor 2) and CDKN1C (cyclin-dependent kinase inhibitor 1C).
