Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.

Abstract excerpt

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder associated with abnormalities of chromosome 15q11q13. The majority of cases result either from a deletion approximately 4 Mb in size, affecting chromosome 15 of paternal origin or from UPD(15)mat; these account for approximately 70 and approximately 20-25% of PWS cases, respectively. In the remaining 3-5% of PWS cases where neither the deletion nor UPD...

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