Dear all,
We are in contact with a family whose son suffers from a Syngap1 mutation: Missense Mutation (c.968T>G bzw. p.Leu323Arg).
They are looking very much and intense to initiate research, but also to understand which kind of research could help to understand the disease better and go into the therapeutic strategy development direction.
It is presumbly a real rare disease, but which might be significant relevance for autism and other diseases.
It would be great, if we could start the discussion how to tackle this rare disease, also already with very detailed research approaches.
Thanks a lot for your contributions,
Winfried
It would help if his symptoms and medical history was briefly summarised, as I suspect it would be non-specific and similar to many other cases of autism from other causes.
For example, my review of the literature shows that every cause of autism is also a cause of deafness, hearing disorder or ear infections. If all these are ruled out, then I think something notable is present.
No deafness, hearing disorder or ear infections is related to the Syngap1 syndrome as far as I know, it is a neurodevelopmental disorder.
best wishes,
Winfried
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