A novel human T17N-phospholamban variation in idiopathic dilated cardiomyopathy

Abstract

BackgroundIn humans mutations in the PLN gene, a crucial Ca2+ cycling protein, have been associated with idiopathic dilated cardiomyopathy with prevalence depending on the population. In Iran, the prevalence of PLN mutations in dilated cardiomyopathy patients is unknown. Our purpose was to identify PLN mutations in Iranian patients suffering from dilated cardiomyopathy. MethodsWe studied 300 unrelated subjects with idiopathic dilated cardiomyopathy and 170 healthy controls for disease-causing PLN mutations by Sanger sequencing. ResultsWe identified one novel heterozygous variant in the PLN gene c.50C > A (p.Thr17Asn). Identified variation probably results in loss of phosphorylation site of CaMK2 and Akt and is in HAX1 binding region. Bioinformatics analysis tools predicted the identified variation is likely pathogenic. ConclusionsIn Iran, similar to most populations, PLN mutations are rarely cause of dilated cardiomyopathy. The confirmation of the pathogenicity of observed variation requires experimental validation.