Targeted gene under study:
OMIM #620019 ARTHROGRYPOSIS, DISTAL, TYPE 11; DA11; OMIM *164860 MET PROTOONCOGENE, RECEPTOR TYROSINE KINASE; MET
Abstract
A heterozygous variant in the MET gene has been identified in a single family in 2019, allowing to provisionally associate MET with isolated distal arthrogryposis. We were able to identify a second family providing the needed evidence to define MET as a new gene causative for isolated distal arthrogryposis. The aim of this call for collaboration is to collect clinical and genetic data of additional patients to better define the genotype-phenotype correlation of MET-related arthrogryposis.
Coordinating clinician
Francesca Mari – francesca.mari@unisi.it
Institution
Medical Biotechnology Dept, University of Siena – Siena University Hospital, Siena, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes/No
3- Linked to a translational/basic research project: Yes/No