Targeted genes/phenotypes under study
- Nabais Sa-de Vries syndrome, type 1 (OMIM#618828)
- Nabais Sa-de Vries syndrome, type 2 (OMIM#618829)
Abstract
We identified six de novo pathogenic missense variants in the SPOP gene in seven individuals with developmental delay / intellectual disability, facial dysmorphisms, and congenital anomalies. Individuals with gain-of function variants share craniofacial dysmorphisms, including congenital microcephaly (NSDVS1; OMIM#618828), that are strikingly different from those individuals carrying dominant-negative variants, who have (relative) macrocephaly (NSDVS2; OMIM#618829).
We are collecting detailed clinical and molecular information of additional individuals with (likely) pathogenic SPOP variants to delineate the clinical spectrum and natural history of these two rare disorders.
Clinicians who identify a patient with a (likely) pathogenic variant in the SPOP gene are invited to contact us. We are currently performing functional validation of the pathogenicity of novel variants.
Thank you in advance for your collaboration.
Abstract
- Dr Maria Nabais Sá
- Dr Bert de Vries
Contact:
- maria.nabaissa@gmail.com; mnabaissa@i3s.up.pt
- bert.deVries@radboudumc.nl
- jean-philippe.theurillat@ior.usi.ch
Institutions
CGPP, IBMC – i3S (Porto, Portugal)
Rabdoudumc (Nijmegen, The Netherlands)
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: no
- Resampling of patients: no
- Linked to a translational/basic research project: yes