Timothy Syndrome, A CACNA1C Gene Genetic Mutation, Results In Varying Symptomatic Disease Progressions

Timothy Syndrome is a rare, multisystem genetic disorder originating from mutations in the CACNA1C gene, which encodes the a1C subunit of the L-type voltage-gated calcium channel. Distinct mutations give rise to multiple clinical variants, leading to heterogeneity in presentation, which can include cardiac arrhythmias, neurodevelopmental abnormalities, and congenital defects. This review synthesizes current knowledge of the molecular and pathophysiological mechanisms linking CACNA1C dysfunction to the syndrome’s clinical manifestations. Insights gained from studying Timothy Syndrome extend beyond the rare disorder, offering a framework for understanding other calcium channel disorders and more prevalent genetic diseases.