CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review

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). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and nonspecific brain MRI findings; a few of which have been under-reported. More than one third of the variants in this cohort were inherited from an asymptomatic or mildly affected parent suggesting reduced penetrance and variable expressivity. Our cohort provides a comprehensive characterization of the spectrum of phenotypes and genotypes among individuals with CECBA and the large data will facilitate counseling and formulating management plans and surveillance recommendations for these individuals.PMID:38044714 | DOI:10.1111/cge.14464

Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: 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 St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research