Jansen Family Blogg – About living with children and disabilities

What is SYNGAP?

20. February 2019 magnarja Comments 0 Comment

Here you can find information about the SYNGAP Syndrome and what we experience about it. (Mutation: c.490C> T;p.Arg164*heterozygot) In the SYNGAP1 gen (de novo) – de novo means a new unknown Mutation. In the whole world, it exists more peoples with Mutation the SYNGAP1 gene. (Look the links at the bottom)

We have a son that has a Mutation in the SYNGAP1 gene.… Read more “What is SYNGAP?”

What is MED12?

2. February 2019 magnarja Comments 0 Comment

Here you can find information about how the mutation (c.5922G> T; p.Gln1974His hemizygotes) work on the MED12 gen and experiences we have. Less than five people in the world have this mutation. Besides, those documented people who had this from before also had a mutation in the OGT gene. Those had some problems (OGT and MED12).… Read more “What is MED12?”