CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype
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 CAC...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-07-01
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| Series: | JACC: Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666084925006321 |
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| author | Victoria Fanucchi, BS Hemal M. Nayak, MD Utkarsh Kohli, MD |
| author_facet | Victoria Fanucchi, BS Hemal M. Nayak, MD Utkarsh Kohli, MD |
| author_sort | Victoria Fanucchi, BS |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-74fe3247e78441018398bc1d17eb34f4 |
| institution | Kabale University |
| issn | 2666-0849 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JACC: Case Reports |
| spelling | doaj-art-74fe3247e78441018398bc1d17eb34f42025-08-20T03:29:10ZengElsevierJACC: Case Reports2666-08492025-07-01301710385410.1016/j.jaccas.2025.103854CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome PhenotypeVictoria Fanucchi, BS0Hemal M. Nayak, MD1Utkarsh Kohli, MD2West Virginia University School of Medicine, Morgantown, West Virginia, USADivision of Cardiology, University of Texas Health, San Antonio, Texas, USADivision of Pediatric Cardiology, Department of Pediatrics, West Virginia University School of Medicine and West Virginia University Children's Heart Center, Morgantown, West Virginia, USA; Address for correspondence: Dr Utkarsh Kohli, Section of Pediatric Cardiology, WVU Medicine Children’s Hospital, 64 Medical Center Drive, Robert C. Byrd Health Science Center, PO Box 9214, Morgantown, West Virginia 26506-9214, USA.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.http://www.sciencedirect.com/science/article/pii/S2666084925006321CACNA1CTimothy syndrome |
| spellingShingle | Victoria Fanucchi, BS Hemal M. Nayak, MD Utkarsh Kohli, MD CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype JACC: Case Reports CACNA1C Timothy syndrome |
| title | CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype |
| title_full | CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype |
| title_fullStr | CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype |
| title_full_unstemmed | CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype |
| title_short | CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype |
| title_sort | cacna1c c 1255g a variant is associated with an atypical timothy syndrome phenotype |
| topic | CACNA1C Timothy syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2666084925006321 |
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