2024
DOI: 10.1101/2024.05.22.24307674
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Calmodulin variants in schizophrenia patients display gain-of-function or loss-of-function effects

Helene Halkjær Jensen,
Malene Brohus,
John W. Hussey
et al.

Abstract: Calmodulin acts as a vital calcium sensor in cells, crucial for relaying calcium signals to different protein partners. While rare missense variants in calmodulin are linked to cardiac arrhythmia, particularly long QT syndrome (LQTS), their role in schizophrenia remains unexplored. We investigated missense variants in the calmodulin-encoding genesCALM1-3in a large-scale sequencing effort involving 24,248 schizophrenia patients and 97,322 controls. Seven carriers were found among cases and twenty among controls… Show more

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