Genetic abnormality Percentage in AS cases
Maternal deletion of 15q11-13 (De novo) ~70%
Paternal UPD 2-5%
Imprinting defects 2-5%
Mutations/variants of UBE3A gene ~5-10 %
Other causes unidentified ~10 %
Note: According to a report by Ramsden et al. 2010, and also based on the data from the public database Decipher (
Table 1: Ascertained genetic abnormalities in AS*.
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