CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype

Victoria Fanucchi; Hemal M. Nayak; Utkarsh Kohli

doi:10.1016/j.jaccas.2025.103854

CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype

Victoria Fanucchi, Hemal M. Nayak, Utkarsh Kohli

Division of Cardiology

Research output: Contribution to journal › Article › peer-review

Abstract

The CACNA1C gene encodes for the Ca_v1.2 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.

Original language	English (US)
Article number	103854
Journal	JACC: Case Reports
Volume	30
Issue number	17
DOIs	https://doi.org/10.1016/j.jaccas.2025.103854
State	Published - Jul 2 2025

Keywords

CACNA1C
Timothy syndrome

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.jaccas.2025.103854

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title = "CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype",

abstract = "The CACNA1C gene encodes for the Cav1.2 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.",

keywords = "CACNA1C, Timothy syndrome",

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AU - Fanucchi, Victoria

AU - Nayak, Hemal M.

AU - Kohli, Utkarsh

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Y1 - 2025/7/2

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AB - The CACNA1C gene encodes for the Cav1.2 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.

KW - CACNA1C

KW - Timothy syndrome

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CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype

Abstract

Keywords

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