Has your child been diagnosed with the KDM6A mutation?
Dr. Damien Lederer, from the Institute of Pathology and Genetics in Belgium, is one of the researchers responsible for the discovery of the KDM6A mutation/deletion of Kabuki Syndrome. He is setting up a KDM6A study group. The aim of the study will be to understand the natural history and phenotypei (aspect of the face and organ involvement) of individuals with a KDM6A malformation.
The study, which has been approved by their ethical committee, requires a relatively short clinical checklist to be completed by your geneticist. For many of you it will not necessarily require an appointment as it can be completed by your geneticist based on previous visits/file. Although not mandatory, Dr Lederer will be requesting photos. Genetics relies heavily on the physical characteristics of a face and the photos will help ascertain if there are differences in facial characteristics between the 2 known types of Kabuki.
To participate or for more information, please contact Dr Lederer