Congenital Disorders of Glycosylation (CDG) Community

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PMM2 hypermethylation


My daughter is 3.5 years old and has a rare chromosomal mutation, resulting in turners syndrome and 16p.13.3 duplication syndrome. Recently I have found that there is hypermethylation of her PMM2 gene. I've done a lot of reading about CDG and it would explain a lot of the unanswered mysteries that we face with her growth and mobility, which were not addressed by her existing diagnosis.

I've asked her geneticist if the hypermethylation would result in CDG, I have not gotten a definitive answer yet. Would anyone on this forum have experience with this and be able to suggest whether hypermethylation of PMM2 would result in a mutated PM which would be considered CDG?

If so, any ideas on what to do from a nutrition standpoint to either influence or regulate methylation or support the process?

Any help or suggestions are so appreciated. hoping to do as much preventatively as possible.

Kind regrads


Dear Rare-Mom,

My name is Rita Francisco and I am a CDG researcher and advocate. I am not aware of the effects of PMM2 gene hypermethylation, but gene hypermethylation has been associated with gene silencing, which would mean that there is reduced protein expression. Did the doctors analyse the levels of PMM2 protein? I can do a literature search, in order to see if there is anything reported on PMM2 and hypermethylation and I can also look into your other question on the influence of nutrition. Please write to, as it will be easier for us to communicate. Thank you! Kindest regards