Gene/phenotype/disorder under study
FERRY3 (#616082)
Abstract
FERRY3 (formerly C12orf4) is part of the FERRY protein complex (including TBCK, PPP1R21, CRYZL1, and GATD1), several components of which are already implicated in rare neurodevelopmental disorders, suggesting a shared disease mechanism.
To date, reported individuals present with neurodevelopmental delay, particularly speech impairment, behavioural abnormalities, autism spectrum disorder, gait disturbances, and mild, non-specific dysmorphism. We have identified additional patients and hypothesise that biallelic variants in FERRY3 represent a cause of recessive neurodevelopmental disorder, including autism. We are seeking to build an international clinical cohort and invite clinicians and geneticists with patients carrying biallelic pathogenic, likely pathogenic, or VUS variants in FERRY3 to collaborate. Our aim is to:
* expand case numbers,
* enable longitudinal clinical follow-up,
* and better define the phenotypic spectrum and disease mechanism.
If you have relevant cases, we would be very keen to connect and collaborate.
Coordinating clinicians
Lorenzo Perilli – l.perilli@ucl.ac.uk ; dottorperilli@gmail.it
Reza Maroofian – r.maroofian@ucl.ac.uk
Institutions
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London
Clinical Pediatrics, Department of Molecular Medicine and Development, Azienda Ospedaliero-Universitaria Senese, University of Siena
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa
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