Gene/phenotype/disorder under study
TFE3 (OMIM #314310 or ORPHA code)
Abstract
TFE3 gene encodes a transcriptional factor that regulates autophagy and lysosomal biology acting as a homo- or heterodimer with the other master regulator of lysosomal biogenesis TFEB. Germline variants in TFE3 have been reported in individuals with intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies (MIM #301066). Very few cases of this condition have been reported (PMID: 32409512; 31833172). To date, no functional studies have been conducted to assess the impact of pathogenic variants on TFE3 activity. Thanks to a well-established expertise in the field of autophagy and lysosomal biology, this project aims to explore the pathophysiology of TFE3-linked intellectual disability by elucidating how variants in TFE3 affect the function of this critical transcriptional regulator.
Coordinating clinicians
Alfonso M. D’Alessio – a.dalessio@tigem.it
Nicola Brunetti-Pierri
Institution
Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes