What are Some Disorders Caused by Genomic Imprinting Errors?
Several pediatric disorders are associated with errors in genomic imprinting. Some of the most notable include:
Prader-Willi Syndrome: Caused by the loss of function of genes on the paternal chromosome 15. Symptoms include hypotonia, obesity, intellectual disability, and behavioral problems. Angelman Syndrome: Resulting from the loss of function of genes on the maternal chromosome 15. This disorder is characterized by severe intellectual disability, lack of speech, seizures, and a happy demeanor. Beckwith-Wiedemann Syndrome: An overgrowth disorder caused by alterations in imprinted genes on chromosome 11. Children with this syndrome may have an increased risk of developing childhood cancers. Silver-Russell Syndrome: A growth disorder caused by imprinting defects on chromosomes 7 or 11, leading to poor growth before and after birth.
