Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation

Abstract excerpt

Sinus node dysfunction (SND) and atrial fibrillation (AF) often coexist, however the molecular mechanisms linking both conditions remain elusive. Mutations in the SHOX2 gene have been recently associated with early-onset and familial AF. Shox2 is a key regulator of sinus node development, and its deficiency leads to bradycardia, as demonstrated in animal models. To provide an extended SHOX2 gene analysis in...

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