Targeted gene under study:
OMIM *615143
Abstract
A heterozygous de novo missense variant of uncertain significance in USP20 was detected in the trio genome sequencing of a patient with developmental delay, dysmorphism and subclinical hypothyroidism. The variant is located in the DUSP1 domain. USP20 has not been associated with any disorders so far. However, the USP20 protein has been shown to play a role in thyroid hormone signalling.
We are interested in exploring the functional impact of USP20 variants located in the protein interaction domains and characterising the clinical phenotype. Any data about other patients with similar variants would be much appreciated.
Coordinating team
Karit Reinson – karit.reinson@kliinikum.ee
Kaisa Teele Oja – kaisateele.oja@kliinikum.ee
Katrin Õunap – katrin.ounap@kliinikum.ee
Institution
Genetics and Personalized Medicine Clinic, University of Tartu, Tartu, Estonia
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: If possible, collection of fibroblasts might be considered
3- Linked to a translational/basic research project: Yes