Dr. Tjitske Kleefstra

Dr. Tjitske Kleefstra

If you have received a diagnosis of KMT2C and would like to make contact with other families please visit the KMT2C Families and Support Facebook group.

If you have not already then please make contact with Dr Sid Banka – Clinical Senior Lecturer, University of Manchester and Honorary Consultant Clinical Geneticist, Manchester University NHS Foundation Trust.  Dr Banka is currently one of the lead researcher’s for KMT2C mutations and he is looking to grow his cohort of patients for current and future research – Siddharth.Banka@manchester.ac.uk

There have been a number of discussions in the KS community recently regarding Kleefstra syndrome and KMT2C (recently named KS2). We wrote to Dr Kleefstra and asked her to provide us with a statement to help clear up any confusion.

Is Kleefstra syndrome and KMT2C the same condition?

“It is really confusing. I also receive many mails from parents/professionals directly with this topic.

I already sent the OMIM database last year a statement that these are two different conditions and that they should remove kleefstra from the designation of the disorder caused by the gene KMT2C, but they have not yet updated their information.

The EHMT1 is in fact KMT1D, and both KMT2C and KMT1D are encoding a protein with very similar activities. Mutations in both genes are causing ID/autism.

In our research we studied a cohort with overlapping features to KS, ‘Kleefstra syndrome like’ but who had no EHMT1/KMT1D mutations and in several we found mutations in other genes, among them KMT2C. We found based on drosophila (fruitfly) modeling that there is a biological interaction between KMT2C and KMT1D/EHMT1, suggesting that there is some clinical and functional overlap.

Now more patients are being diagnosed with KMT2C mutations and I am currently collaborating with Dr. Sid Banka to describe more exactly what is the KMT2C related disorder.”

Tjitske Kleefstra, December 2018


Professor Kleefstra advised that she has again become more active in KMT2C related research and she is collaborating closely with Dr Sid Banka. She states that she is in close contact with Dr Banka and that they are now finalising the cohort studies they have initiated. She goes on to say that this always takes more time than anticipated, but she does hope to have more information on this in the next six months.

September 2021


Page updated: 27-09-2021