Targeted syndrom under study
ACTL6A (MIM*604958)/Coffin-Siris syndrome (CSS)/NicolaidesBaraitser syndrome (NCBRS)
Abstract
Variants in the actin-like 6A (ACTL6A; MIM*604958) gene have been associated with a developmental disorder with variable craniofacial dysmorphisms and congenital defects. Interestingly, the p.R377X variant has been found to cause a specific BAF-opathy phenotype, with clinical features reminiscent Coffin-Siris/Nicolaides-Baraitser syndromes. So far, a very limited number of patients has been reported. The identification of more affected individuals will better define the entire clinical core of the disorder and the associated genotype-phenotype correlations. Moreover, considering the possible skin involvement in the BAF complex-related disorders, the cutaneous phenotype will be also delineated.
Coordinating clinicians/researchers
Giulia Pascolini, MD, PhD – giupascolini@gmail.com; g.pascolini@idi.it
Institution
Rare Diseases Unit, Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy
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