Hussam Al-Kateb, P Y Billie Au, Siren Berland, Benjamin Cogne, Florence Demurger, Joel Fluss, Bertrand Isidor, L Matthew Frank, Konstantinos Varvagiannis, David A Koolen, Marie McDonald, Sarah Montgomery, Stéphanie Moortgat, Marie Deprez, Deniz Karadurmus, Julie Paulsen, André Reis, Melissa Rieger, Georgia Vasileiou, Marcia Willing, Marwan Shinawi
Calmodulin-binding transcriptional activator 1 (CAMTA1) is highly expressed in the brain and plays a role in cell cycle regulation, cell differentiation, regulation of long-term memory, and initial development, maturation, and survival of cerebellar neurons. The existence of human neurological phenotypes, including cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA), associated with CAMTA1 variants, has further supported its role in brain functions. In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53)...
December 3, 2023: Clinical Genetics