Related Experiment Video
Updated: Sep 16, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype
Victoria Fanucchi1, Hemal M Nayak2, Utkarsh Kohli3
1West Virginia University School of Medicine, Morgantown, West Virginia, USA.
None:
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.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:43Incomplete Dominance
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...