Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Epigenetic processes, including genomic imprinting, are important for normal human growth and development. Beckwith-Wiedemann syndrome (BWS) is a disorder characterized by pre- and postnatal overgrowth in children, abdominal wall defects, macroglossia and a high risk of tumors. BWS is caused by different molecular defects of the 11p15 region containing several imprinted genes. The genes are localized into two domains: the first one is controlled by the imprinting control region ICR1 and the second one is controlled by ICR2. Epigenetic and genetic disturbances observed in BWS include ICR1 hypermethylation, ICR2 hypomethylation, paternal uniparental disomy, deletions, duplications, translocations, inversions in the 11p15 region, and point mutations in the CDKN1C gene. In this work new findings about Beckwith-Wiedemann syndrome etiology and molecular diagnostics are presented.