Imprinting Disorders: Understanding Prader-Willi and Angelman Syndromes

Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS)

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders that result from absent or reduced expression of certain genes on specific chromosomes.

Angelman Syndrome (AS)

AS is a neurological disorder that affects the nervous system and is characterized by developmental disabilities, seizures, and speech deficits. People with AS often have a distinctive facial appearance, short stature, severe intellectual disabilities, and stiff arm movements.

Prader-Willi Syndrome (PWS)

PWS is characterized by excessive hunger, intellectual disabilities, growth hormone deficiency, and behavioral problems. People with PWS often have a specific facial appearance, including narrow eyes, a thin upper lip, and a large mouth.

Causes

Both AS and PWS can be caused by uniparental disomy, a condition where an individual inherits two copies of a chromosome from one parent and none from the other. In the case of AS, the abnormality occurs on chromosome 15, while in PWS, it occurs on chromosome 15 or 16.

Conclusion

Understanding imprinting disorders like AS and PWS is crucial for researchers, healthcare professionals, and families affected by these conditions. This knowledge empowers them to develop targeted therapies, provide appropriate care, and support individuals and their families facing these challenging disorders.