UBE3A mutation

What is it about?

UBE3A c.1347_1348delGA mutation is related to a severe neurodevelopmental disorder , namely the Angelman Syndrome. The mutation was surprisingly detected in numerous subjects and was set up for revision and re-evaluation

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Why is it important?

The c.1347_1348delGA is the only mutation reported >20 times in the UBE3A LOVD database. This may mean that it is a" hot spot" mutation related to the Angelman syndrome. However a high rate of detection (among normal individuals as well) in our laboratory has set the question of whether this is a true finding . We look forward to constructive comments that would help elucidate this issue