Unclear UBE3A mutaion

[Seri4508]

Hello, my name is brittanie and I have a 3 year old daughter named serenity she is currently un diganoised. Serenity has a long history of seizures (including infantile spasms) she is non verbal, has an ataxic gait (been walking since 19 months), cogntive delays she dosent seem to understand much of anything said to her or can't express her self ( like when hungry or wet) its pretty much a guessing game. She was previously dx with CDKL5 that dx was over turned when they tested my son (who isn't normal developing but dosent fit cdkl5) and he was found to have the same mutaion. We proceeded with further testing Serenity has had a normal fish, normal meth but was found to have two unclear mutaions in UBE3A one they were able to complelty rule out bc it was deep with in an intron but the other one they said they don't have enuff info to say its Desease causing or to rule it out.( I should be receiving the results reports soon and will be able to share the mutaion with you all) has anyone. Else had these type of results. Serenity isn't a classic angelman baby she would seem to fit more of a mild type. She has been tested for Retts, Mowat-Wilson,CDKL5, prader willi

[adarnette]

Hi!

I've had a similar experience with my almost 4 year old. My son has a unique spontaneous mutation on his UBE3A that did not fit the usual mutation types either. They said this particular mutation was not in any data banks. However he met literally 100% of the diagnostic criteria and is seriously affected (almost 4 with 0 words, not walking, not sleeping, tremors, seizures etc. but with the telltale laughter and hand flapping) In our case to confirm that they really thought it was AS and not a random blip in his genes, they tested me and his dad to make sure this unique mutation wasn't just a unique marker one of us carried that was irrelevant to any symptoms he was experiencing, and we both tested negative for it.

Now I really don't know if this is true or not, but when my son was diagnosed our geneticist mentioned that sometimes children with AS caused by spontaneous or unique mutations can be much more mildly affected than children with the most commonly found genetic causes, so if that is true you could still get an AS diagnosis.

Good luck, I know the diagnosis hunt is an exhausting one!
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Annie, mom in Boulder CO to Alex 3.5 with spontaneous UBE3A Mutation