Rinné et al. conducted a study on a three-generation Turkish family where whole genome sequencing was used to identify a variant of CACNA1D associated with SA dysfunction (Figure 3A) (Rinné et al., 2022) Specifically, examination of exon 22 on the CACNA1D gene led to characterization of the p (Arg930His) variant of the CACNA1D gene, which induces the alteration of the Cav1.3 long isoform, thus resulting in loss of function of the channel which leads to SANDD. The gene discussed is CACNA1D; the disease is sinoatrial node dysfunction and deafness.