Gene/phenotype/disorder under study
TOUSLED-LIKE KINASE 2; TLK2 ; MIM* 608439
Abstract
Pathogenic loss-of-function variants in TLK2 are associated with a recognizable neurodevelopmental disorder (MRD57, MIM# 618050) and a characteristic DNA methylation episignature. We identified a patient carrying a complete TLK2 duplication resulting in four copies (quadruplication). Interestingly, episignature analysis revealed an inverse methylation pattern compared with the known TLK2 loss-of-function signature.
We are interested in establishing collaborations with groups who may have individuals carrying TLK2 duplications in order to further investigate the clinical spectrum, methylation profile, and potential dosage-sensitive disease mechanisms associated with increased TLK2 dosage.
Coordinating team
Asuman Koparir, MD, PhD – Asuman.Koparir@genetikum.de
Eva Metzger, MD – Eva.Metzger@genetikum.de
Cord-Christian Becker, MD – Becker@genetikum.de
Institutions
MVZ Genetikum GmbH, Stuttgart, Germany
MVZ Genetikum GmbH, Neu-Ulm, Germany
MVZ Genetikum GmbH, München, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (DNA methylation analysis)
2- Resampling of patients: Yes (If DNA concentration not optimal)
3- Linked to a translational/basic research project: Yes