Closed
Targeted gene(s)/phenotype under study
Gene: ERLIN1 (OMIM #611604)
Abstract
To date, only three homozygous pathogenics variants of ERLIN1 have been reported in 4 families with either infantile-onset hereditary spastic paraparesis or amyotrophic lateral sclerosis. We found a homozygous pathogenic variant in a child with spastic paraparesis and intellectual disability and wondered whether ID was a feature of the phenotype in youngest affected individuals.
For now, we collected the disease history of a few patients and wish to get more to precise the phenotypic spectrum associated with biallelic ERLIN1 variants.
Coordinating clinicians/researchers
Dr. Cyril Mignot
Contact:
Institution
Clinical Genetics
Pitié-Salpêtrière Hospital
Paris, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: no
- Resampling of patients: no
- Linked to a translational/basic research project: no