Prader Willi/Angelman (SNPRN) LPU005

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are both caused by a loss of genes in 15q11-13. Around 70% of patients exhibit a deletion of 3-4 Mb, whilst 2-4% of patients exhibit a smaller deletion of the Imprinting Centre (IC). However only 80% of AS patient's exhibit these defects and the remaining are believed to have mutations of one or more genes (UBE3A) in the critical region, for which the Cytocell Angelman probe (LPU 006) is designed for.

SNRPN is one of four imprinted loci mapping to the critical region. The imprinting centre is 100 Kb telomeric to SNRPN. Deletions or mutations in the IC impair the imprinting process and cause the two distinct diseases. The probe mixture covers the imprinting region however it cannot detect small deletions of the Angelman region or uniparental disomy.