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

Producción científica: Article › revisión exhaustiva

Resumen

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.

Idioma original	English (US)
Número de artículo	103854
Publicación	JACC: Case Reports
Volumen	30
N.º	17
DOI	https://doi.org/10.1016/j.jaccas.2025.103854
Estado	Published - jul 2 2025

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",

author = "Victoria Fanucchi and Nayak, \{Hemal M.\} and Utkarsh Kohli",

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doi = "10.1016/j.jaccas.2025.103854",

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AU - Kohli, Utkarsh

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Y1 - 2025/7/2

N2 - 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.

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

UR - https://www.scopus.com/pages/publications/105008304748

UR - https://www.scopus.com/pages/publications/105008304748#tab=citedBy

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DO - 10.1016/j.jaccas.2025.103854

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JO - JACC: Case Reports

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

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