Key result
Targeted sequencing identified five rare variants in the SORBS2 gene among 59 ARVC patients, and Sorbs2 knock-out mice exhibited ARVC-like phenotypes, establishing SORBS2 as a susceptibility gene.
Why the study?
Known causative genes account for only approximately 60% of arrhythmogenic right ventricular cardiomyopathy probands, leaving the genetic basis for the remaining 40% elusive.
SORBS2 is a newly identified susceptibility gene for arrhythmogenic right ventricular cardiomyopathy, with its deficiency causing ARVC-like phenotypes in mice.
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No immediate change to ARVC care; leaves open SORBS2 validation in larger human cohorts.
Ding et al. (2019) studied Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=59). SORBS2 gene variants was evaluated on Identification of rare variants in the SORBS2 gene. Targeted sequencing identified five rare variants in the SORBS2 gene among 59 ARVC patients, and Sorbs2 knock-out mice exhibited ARVC-like phenotypes, establishing SORBS2 as a susceptibility gene.
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