What is the Kleefstra-Syndrome?

I had not heard of Kleefstra syndrome (SK; Orphanet 261494; OMIM 610253) until the day we got the genetic test results of our daughter. Our daughter has this rare and uncommon syndrome caused by an alteration in the EHMT1 gene (eucromatin histone methyltransferase; OMIM 607001) and affects neurological development. It was discovered in 2006 by the clinical geneticist who named it, Prof. Dr. Kleefstra from Radboud University, The Netherlands (Kleefstra et. al 2006, PMID:16826528). Intellectual deficit, hypotonia, language delay, autism and many other associated diseases are some of the clinical manifestations that, to a lesser or greater degree, can appear (Kleefstra et. al 2019, GeneReviews, PMID: 20945554).

Knowing the news of the diagnosis meant the closure of a chapter. We had a name for the syndrome, and this fact made it easier for us to look ahead. But at the same time an unknown and uncertain world opened up for us. Those affected by KS have a very different clinic among themselves. How would our daughter develop? Will she walk? Will she be able to talk? Many questions are still unanswered. The community of KS families (kleefstrasyndrome.org/facebook-groups) is being very supportive and we feel accompanied on this journey. We are also learning a lot from the experiences and the difficulties that can arise: delay in correct diagnosis of associated diseases, lack of knowledge of effective treatments or inadequate management of the disease.

Doctors can tell us little about our daughter’s future. We can only hope and depending on how she evolves, we will act. I have spent a large part of my professional life developing new treatments for diseases with few therapeutic opportunities. So I am not satisfied with just waiting, I want to offer her everything possible to develop her full potential and assist her in her health problems. And that means teamwork and seeking answers about KS through research. Today we don’t have them, simply because it is a relatively new syndrome (less than 15 years) and because there are few cases. Continuing to advance knowledge is key to identifying more effective treatments and adopting preventive measures that will improve the lives of our children. This is what has happened with other diseases, for example, with Down’s syndrome. And this is where we want, my husband and I, to put our efforts.

Note: The summary of the KS in Orphanet is from 2012. I recommend you to go to the updated information published in the section “Detailed information”. The scientific publications cited are only available in English.