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Autosomal dominant neurodevelopmental disorders

In recent years it has become evident that in countries with highly developed health systems and low consanguinity rates newly arisen (de novo) mutations acting in an autosomal dominant manor is the major cause of neurodevelopmental disorders (NDDs). Mostly single gene mutations are found, but also genomic copy variants such as deletions are relatively frequent. Technological developments such as microarrays and genome sequencing have greatly advanced their detection. Groups at the Institute have made important contributions and performed systematic studies e.g. (Rauch 2006, Hoyer 2007, Rauch 2012, Popp 2017. In addition, we have identified several NDD associated genes e.g. TCF4 (Zweier 2007), ARID1B (Hoyer 2012), CTCF (Gregor 2013), DPF2 (Vasileiou 2018, RHOBTB2 (Straub 2018) or FBXO11 (Gregor 2018). The enormous genetic heterogeneity is a challenge for the genetic clinics. Only the comparison of multiple affected individuals with mutations in the same gene allows a more precise description of the disease entity and providing a prognosis for newly diagnosed cases. Groups at the Institute have contributed extensively to the clinical characterization of syndromal and non-syndromal NDDs. Some examples include  Zweier 2005, Zweier 2008, Gregor 2011, Reuter 2017.

The research has been generously supported by extramural funding for individual projects and for consortia by the German Research Foundation (DFG) and the German Ministry of Education and Research (BMBF). Prof. Reis is currently the coordinator of the BMBF research consortium on rare disorders of altered chromatin dynamics CHROMATIN-Net.