Gene/phenotype/disorder under study
RFX3, RFX4, RFX7
Abstract
The RFX (Regulatory Factor X) gene family is an evolutionarily conserved group of transcription factors that regulate gene expression through binding to DNA sequences called X-boxes. The human RFX family consists of eight members (RFX1-8) plus two associated genes (RFXAP and RFXANK) that form part of the RFX regulatory complex. De novo and inherited variants in RFX3, RFX4 and RFX7 have been linked to intellectual disability, autism spectrum disorder, and/or ADHD, delineating a distinct neurobehavioral phenotype associated with RFX haploinsufficiency.
In light of the limited data available on RFX-related disorders and the identification of additional patients, we aim to expand the clinical cohort and invite clinicians and geneticists managing patients with heterozygous pathogenic, likely pathogenic, or VUS variants in RFX3, RFX4, or RFX7 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 clinicians
Lorenzo Perilli – l.perilli@ucl.ac.uk
Michele Minerva – micheleminerva11@gmail.com
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
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