The overall aims of our research are:
- to identify additional patients with mutations in DHX30
- to characterize the clinical spectrum
- to further understand the underlying pathogenic mechanism
The molecular and cellular consequences of the identified mutations and associated protein disturbances are being further investigated. These studies aim to unravel molecular mechanisms involved in DHX30-associated disorder, and may have implications in further management of affected individuals.
We are especially interested in novel mutations and/or primary cell lines of affected individuals.
Diagnostic testing on research basis is offered at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany. Contact: d.lessel@uke.de.
Analysis are being performed together with the group of Prof. Hans-Jürgen Kreienkamp.