Angelman Syndrome and Prader-Willi Syndrome

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are complex neurodevelopmental genetic disorders characterized by developmental delay and intellectual disability. AS is caused by the loss of function of maternally inherited genes within 15q11.2-q13 due to deletion, paternal uniparental disomy, ubiquitin-protein ligase E3A (UBE3A) gene mutations, imprinting defects, translocation defects, or unknown causes.    PWS is caused by loss of function of paternally expressed genes in the same region (15q11.2-q13) due to deletions, maternal uniparental disomy, chromosome translocation, or imprinting defects.    Laboratory testing can be used to make a definitive diagnosis of PWS or AS, which is crucial for early intervention.  Laboratory testing is also used to identify the disease mechanism, which is important for determining recurrence risk.   

Tabs Content
Content Review: 
July 2019

Last Update: August 2019