Gene/phenotype/disorder of interest
SLC7A1
Abstract
SLC7A1 encodes a putative cationic amino acid transporter that is robustly expressed by endothelial cells at the blood-brain barrier. Through a growing international cohort, we have identified SLC7A1 as a cause of neurodevelopmental disorders ranging from simple hereditary spastic paraplegia to severe developmental delay, microcephaly, epilepsy and complex movement disorders. We are interested in additional cases to expand the genotype-phenotype continuum and for functional characterization. While patient samples are not necessary for participation, we are looking for skin fibroblasts for iPSC studies.
Coordinating clinician
Daniel Calame; Daniel.calame@bcm.edu
Institution
Section of Pediatric Neurology & Developmental Neurosciences, Department of Pediatrics, Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? Y