Targeted gene(s)/phenotype under study :
SMARCC2 (OMIM 601734)
SMARCC2 or BAF170 is a subunit of the chromatin-remodelling complex BAF (BRG1/BRM-associated factor). The assembly of SMARCC2 and SMARCC1 constitute the core of the BAF complex. Similar to several other BAF subunits including ARID1A, ARID1B, SMARCA4, DPF2, SMARCB1, SMARCE1 and others, pathogenic variants in SMARCC2 have recently been associated with neurodevelopmental delay (Machol et al. 2019, AJHG). The clinical presentation of the affected individuals harbouring predicted gene disrupting and missense variants in SMARCC2 significantly overlaps with that of Coffin-Siris and Nicolaides-Baraitser syndromes.
We aim to expand the mutational and phenotypic spectrum of SMARCC2-related developmental disorder by presenting new cases, systematically describing clinical findings according to the Human Phenotype Ontology, and performing genotype-phenotype correlations. Furthermore, we will establish cellular assays to gain insight into functional implications and molecular mechanisms associated with SMARCC2 missense pathogenic variants.
At present, we have collected more than 25 affected individuals, and we aim to include additional patients with de novo or inherited pathogenic variants in SMARCC2.
Coordinating clinicians /researchers:
- Dr. Georgia Vasileiou
- Dr. Andrea Accogli
Institute of Human Genetics
Friedrich Friedrich-Alexander-University Erlangen-Nürnberg
Department of Human Genetics
McGill University Health Centre
Montreal, Quebec, Canada
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: No