CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype
The CACNA1C gene encodes for the Ca<sub>v</sub>1.2 voltage-gated calcium channel. De novo genetic variation in this gene is associated with Timothy syndrome (long QT syndrome type 8) and a wide range of other cardiac phenotypes. This wide phenotypic variability informs the need to study the contribution of CACNA1C genetic variability to phenotypic variability. We report a CACNA1C c.1255G>A(p.Gly419Arg) mutation in a 9-year-old boy and his mother (43-year-old woman) who both presented with an atypical Timothy syndrome phenotype.
Authors
- Hemal M. Nayak (ORCID: https://orcid.org/0000-0002-1899-079X)
- Utkarsh Kohli (ORCID: https://orcid.org/0000-0003-3410-840X)
- Victoria Fanucchi
Institutions
- West Virginia University (US)
- The University of Texas at San Antonio Health Science Center (US)
Publication Details
- Journal
- JACC Case Reports
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1016/j.jaccas.2025.103854
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- West Virginia University