Gene/phenotype/disorder under study
SPEN (OMIM*613484)/RATARS (OMIM#619312)
Abstract
RATARS is a neurodevelopmental disorder characterized by global developmental delay/intellectual disability, behavioral abnormalities, recognizable craniofacial dysmorphisms, precocious puberty, and obesity in females. It is caused SPEN haploinsufficiency. Affected females show a distinct X-chromosome DNAm signature. We are gathering a second cohort of affected individuals to broaden the phenotypic spectrum of the disorder and better define its natural history. Moreover, we are collecting blood-derived DNA samples from patients with LoF SPEN variants to refine the previously identified DNAm signature and identify an episignature to test both males and females. Lastly, we are collecting primary fibroblasts to generate iPSCs as in vitro disease model.
Coordinating clinicians
Francesca Clementina Radio – fclementina.radio@opbg.net
Marco Tartaglia – marco.tartaglia@opbg.net
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, Rome
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: Yes/No
3- Linked to a translational/basic research project: Yes