Gene/phenotype/disorder under study
KIF1C (OMIM: 603060) — Autosomal spastic paraplegia type 58 (SPG58) / Spastic ataxia 2 (SPAX2) (ORPHA:397946; OMIM:611302)
Abstract
We are building an international cohort of individuals with biallelic pathogenic/likely pathogenic variants in KIF1C (SPG58/SPAX2). We currently collected 10 families; two families share the same variant, enabling a founder-effect/haplotype study. We invite additional cases with progressive lower-limb spasticity with/without cerebellar ataxia, dystonia/tremor, peripheral neuropathy, or hypomyelinating/leukoencephalopathy on MRI. Contributors are asked to share de-identified clinical data (onset, milestones, neurologic exam, MRI, EMG/NCS, key labs) and variant details (HGVS, zygosity, inheritance, classification, segregation). No resampling and no DNA re-analysis are planned; for recurrent variants, sharing existing WES/WGS variant calls or regional SNP genotypes (optional) will support haplotype analyses. Results will be disseminated in a collaborative publication acknowledging ERN-ITHACA.
Coordinating clinician
Dr. Sajjad Biglari, PhD – S1369b@yahoo.com
Institution
Farin Genetics Laboratory, Tehran, Iran
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No