Gene/phenotype/disorder under study
LAMC3
Abstract
LAMC3 gene encodes the laminin gamma-3 (γ3) chain, a component of heterotrimeric laminin extracellular matrix molecules. Biallelic variants cause a recessive form of cortical malformations characterized primarily by occipital pachygyria and polymicrogyria, along with global developmental delays and epilepsy. The disorder is rare, with only a small number of families reported to date. Having identified additional patients, we aim to expand the clinical cohort and invite clinicians and geneticists managing patients with biallelic pathogenic, likely pathogenic, or VUS variants in LAMC3 to collaborate. Our objectives are to:
> expand case numbers,
> enable longitudinal clinical follow-up,
> better define the phenotypic spectrum and disease mechanism.
If you have relevant cases, we would be very keen to connect and collaborate.
Coordinating team
Lorenzo Perilli – l.perilli@ucl.ac.uk; dottorperilli@gmail.it
Giovanni Falcicchio – gio.fal@hotmail.it
Institutions
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom
Clinical Pediatrics, Department of Molecular Medicine and Development, Azienda Ospedaliero-Universitaria Senese, University of Siena, 53100 Siena, Italy
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16126 Genoa, Italy
DiBraiN Department, University of Bari Aldo Moro, Bari, Italy
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