Targeted gene under study:
GTF3C3 (OMIM # 604888)
Abstract
We are currently looking to include patients with biallelic variants in GTF3C3 gene. We have already gathered a group of patients presenting with microcephaly, developmental delay, dysmorphic facies, intelectual disability, and brain anomalies. In addition, we performed functional studies which confirmed that GTF3C3 variants are associated with neurodevelopmental phenotypes in humans and zebrafish. So please let us know if you have any patients with biallelic GTF3C3 variants and presenting with neurodevelopmental disorders.
Coordinating clinicians
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Dr. Mohamed Abdel-Hamid – mohamadnrc@hotmail.com
Institution
Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK
Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt
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: Yes