Targeted syndrom under study
Biallelic pathogenic variants in the ZBTB11 gene, which encodes the transcriptional regulator Zinc Finger (Znf) and Broad-complex, Tramtrack, and Bric-à-brac (BTB) Domain containing 11, have been associated with intellectual disability, varying degrees of atrophy affecting multiple brain regions, and combined malonic and methylmalonic aciduria (CMMMA), causing autosomal recessive intellectual disability (69). This extremely rare disorder has been described previously in 16 patients. Movement disorders in these patients have not been adequately defined. With this collaboration, we aim to outline the characteristics and phenotypic spectrum of ZBTB11-related disorders. We have collected clinical data, comprising pictures, MRIs, and EEGs, on 7 patients from 4 unrelated families. We aim to perform a comprehensive analysis of the phenotypic spectrum and neuroradiological features associated with ZBTB11 variants, with special attention to movement disorders.
University College of London
Hospital Sant Joan de Déu, Barcelona
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