Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without intellectual disability. We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novel CAMTA1 sequence variant. Furthermore, by identifying an additional, recurrent CAMTA1 sequence variant in an individual with a more typical neurodevelopmental disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.

Department of Biochemistry and Genetics University Hospital Angers Angers France

Department of Neurology 1st Faculty of Medicine and General University Hospital Prague Charles University Prague Czech Republic

Institute of Human Genetics Technical University of Munich Munich Germany

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

Munich Cluster for Systems Neurology SyNergy Munich Germany

Neurogenetics. 2022 Jan;23(1):77. doi: 10.1007/s10048-021-00641-w. PubMed

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