 Hello, my name is Gijs Sante and I'm a clinical geneticist in training in the Leiden University Medical Center in Leiden in the Netherlands. I'd like to talk to you today about our paper, the Coffin-Cyber syndrome and the BAF complex genotype phenotype study in 63 patients. I'm standing to you here on the bridge that connects the lab to the clinic of our department and this is quite fitting as this paper was a truly collaborative effort between these two disciplines. As you know, last year the cause of Coffin-Cyber syndrome was elucidated and it was shown both by our group and that of Namichi Matsumoto in Japan that mutations in the BAF complex in fact cause Coffin-Cyber syndrome. As there are several genes with cause Coffin-Cyber syndrome, we thought it might be interesting to try and tease out the differences between these patient groups. So what we did is to do a mutational screen in 63 patients with a clinical diagnosis of Coffin-Cyber syndrome. We found a mutation in 45 of them, 28 of those were in A1b. Now this complicated our genotype phenotype study a bit because consequently the other mutation groups became smaller. However, we do feel that we've made a good first start in trying to tease out the differences between these patient groups. Another key point of our paper is that we found for the first time that mutations in A1a appear to be mosaic. This is quite clear in several of our patients. We think that this may be true as also in mice, heterozygous knockouts appear to be lethal and this might be the same in human beings. It might also explain the difference in frequency between A1a and B1b mutations. Another thing we did to try and find out how good we are at trying to make the distinction between pathogenic and non-pathogenic mutation is that we extracted the variants from the exome variant server. We applied our algorithm and tried to find out whether we would have classified those as pathogenic or non-pathogenic. We found out that this was relatively easy for genes for which truncating mutations are causal but for other genes this was a lot more difficult which is why we recommend that parents are screened whenever available to find out whether mutations are de novo as expected. Now, I hope I have inspired you to read the full article and I'd like to thank our collaborators and the patients and their parents without whom this paper would not have been possible. If you have any questions or comments please send me an email at senton.lumc.nl. Thank you for your attention.