We welcome international collaboration for the collection of additional cases of UBE3B-related disorder. Given the rarity of this condition, pooling clinical, neuroimaging, and molecular data across centers is particularly valuable.
Aims: To expand the clinical and molecular delineation of UBE3B-related disorder, with particular focus on:
• Confirming and further characterizing the Egyptian variant c.1076G>A (p.W359*) as a possible founder mutation, including formal haplotype analysis in families from Upper Egypt
• Better defining the prevalence and natural history of cardiac involvement, in particular hypertrophic cardiomyopathy with outflow tract obstruction, and of ophthalmologic findings such as spherophakia, which have been reported in only a small number of patients to date
• Establishing genotype-phenotype correlations, where possible, particularly between variants within versus outside the HECT domain and the severity of neurodevelopmental and extraneurological involvement
• Expanding the recognized phenotypic spectrum, particularly in underrepresented populations
Inclusion criteria: Any individual with confirmed biallelic pathogenic or likely pathogenic variants in UBE3B, regardless of age or ethnic background.
Contact:Clinicians and researchers interested in collaboration are welcome to contact the lead moderator: Prof. Maha S. Zaki: dr_mahazaki@yahoo.com
UBE3B