Targeted gene under study:
HSF2 (OMIM *140581)
Heat Shock Factor 2 (HSF2) is a crucial regulator in the intricate cellular response to stress and proteotoxicity. As a transcription factor, HSF2 plays a central role in maintaining cellular protein homeostasis and orchestrates the transcriptional activation of heat shock proteins (HSPs) in response to various stressors.
In our ongoing research, we have identified several patients, among them one who has been previously reported, harboring HSF2 variants and presenting with a neurodevelopmental disorder. Clinical manifestations include in particular developmental delay, microcephaly and seizures.
We are currently involved in an effort to comprehensively characterize the phenotypic manifestations linked to HSF2 gene variants to further delineate the associated disorder.
Our objective is to gather clinical, brain MRI (if available), and genetic data. Please do not hesitate to contact us if you have identified a candidate HSF2 variant (SNV or deletion encompassing HSF2) to contribute to our study.
Department of Genetics, Robert-Debré University Hospital, AP-HP, France
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