Key result
Novel CACNA2D1 missense mutation linked to familial arrhythmia in whole-exome sequencing study.
Why the study?
Mutations in the AP-related gene CACNA2D1 have been identified as a causative factor for primary electrical disorders causing arrhythmia, but novel mutations remain to be characterized.
Case Report (n=204)
No
The identification of a novel de novo mutation in the CACNA2D1 gene expands its mutation spectrum and aids in genetic counseling for primary electrical disorders.
Should not alter arrhythmia management or counseling yet; leaves open broader CACNA2D1 role pending replication.
BACKGROUND: Primary electrical disorders (PEDs) are a group of cardiac rhythm abnormalities that occur in the absence of detectable structural heart disease and are a significant cause of sudden cardiac death (SCD). The initiation of cardiac muscle contraction and relaxation is orchestrated by the action potential (AP), generated through ionic changes across the membrane. Mutations in the AP-related gene CACNA2D1 have been identified as a causative factor for PED. METHODS: We recruited a Chinese family with a history of arrhythmia. The proband has experienced palpitations and chest tightness for over 40 years, with symptoms worsening over the past year. Whole exome sequencing (WES) was used to determine the genetic etiologies in this family. RESULTS: A novel heterozygous missense mutation (NM_000722.3: c.1685G > C;p.G562A) of CACNA2D1 gene was detected. Genotyping of the proband's parents indicated that the arrhythmia phenotype in the proband was caused by a de novo mutation. CONCLUSIONS: WES was utilized to explore the genetic etiology in a family with arrhythmia, leading to the identification of a novel mutation in the CACNA2D1 gene. This study not only expands the mutation spectrum of the CACNA2D1 gene but also contributes to genetic counseling and clinical diagnosis for this family.
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Wang et al. (2024) conducted a case report in Arrhythmia (Primary electrical disorders) (n=204). CACNA2D1 gene mutation (c.1685G > C; p.G562A) vs. Wild-type / healthy controls was evaluated on Identification of genetic etiology of arrhythmia via whole exome sequencing. A novel de novo heterozygous missense mutation (c.1685G > C; p.G562A) in the CACNA2D1 gene was identified as the genetic etiology of arrhythmia in a Chinese family.
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