Gene/phenotype/disorder under study
ZMYND11; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; MRD30; OMIM # 616083.
Abstract
ZMYND11 has been identified has the critical gene for 10p15.3 deletion syndrome, a syndromic condition with peculiar phenotypic features and intellectual disability. To date, 59 patients have been reported, but the phenotypic spectrum is still under definition due to the phenotypic heterogeneity. Our aim is to expand the knowledge about this condition, collecting clinical and instrumental data (in particular, radiological and neuroradiological data if available, as well as haematological and hormonal investigations) from affected individuals with variants in ZMYND11 gene.
Furthermore, in collaboration with prof. Marco Tartaglia and Dr Clementina Radio (Molecular Genetics and Functional Genomics – Ospedale Pediatrico Bambino Gesù, Rome) we will collect sample from affected patients (blood or DNA) in order to define the occurrence of a disease-specific epigenetic signature.
Coordinating clinicians
Dr. Gianluca Contrò – contro.gianluca@ausl.re.it
Dr. Livia Garavelli – livia.garavelli@ausl.re.it
Prof. Marco Tartaglia (Molecular analyses – methylation profile) – marco.tartaglia@opbg.net
Institutions
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
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: No
2- Resampling of patients: Yes (blood or DNA)
3- Linked to a translational/basic research project: No