Gene under study
KLC4 (OMIM 620909)
Abstract
Biallelic KLC4-variants have been reported by Bayrakli et al (2015) in a family with three affected siblings presenting with a phenotype of progressive complicated spastic paraplegia. We identified a few additional cases presenting with spastic paraplegia. We are seeking collaborations to further delineate the phenotypic spectrum and to explore functional studies to decipher the pathophysiological mechanism underlying the KLC4-related disorder.
Coordinating clinician
Marije Meuwissen – Marije.Meuwissen@uza.be
Institution
Center of Medical Genetics, University Hospital Antwerp/ University of Antwerp, Antwerp, Belgium
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes (potentially)
3- Linked to a translational/basic research project: Yes