PubMed ID | Description |
---|---|
20034088 | Abaied et al. (2010) found a frameshift mutation in UBE3A (3240_3255delinsAGATGTT) in a large family with 14 individuals affected with AS. |
19213023 | Camprub? et al. (2009) identified 11 pathogenic mutations (including 8 mutations that had not been previously reported) in UBE3A in patients with AS. One of the novel mutations was a de novo frameshift. |
8988172 | Matsuura et al. (1997) sequenced UBE3A in 11 AS patients. They found a de novo frameshift mutation (1344delAG) and a de novo nonsense mutation (R417X). |
Maternally inherited mutations cause Angelman syndrome.
Focal duplications of UBE3A have not been reported. 15q11-q13 maternally inherited interstitial duplications are associated with autism (608636). Please see linked region for details.