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Background   BAG3  gene mutations have been recently implicated as a novel cause of dilated cardiomyopathy (DCM). Our aim was to evaluate the prevalence of  BAG3  mutations in Polish patients with DCM and to search for genotype-phenotype correlations.    Methods  We studied 90 unrelated probands by direct sequencing of  BAG3  exons and splice sites. Large deletions/insertions were screened for by quantitative real time polymerase chain reaction (qPCR).    Results  We found 5 different mutations in 6 probands and a total of 21 mutations among their relatives: the known p.Glu455Lys mutation (2 families), 4 novel mutations: p.Gln353ArgfsX10 (c.1055delC), p.Gly379AlafsX45 (c.1135delG), p.Tyr451X (c.1353C>A) and a large deletion of 17,990 bp removing  BAG3  exons 3–4. Analysis of mutation positive relatives of the probands from this study pooled with those previously reported showed higher DCM prevalence among those with missense vs. truncating mutations (OR = 8.33, P = 0.0058) as well as a difference in age at disease onset between the former and the latter in Kaplan-Meier survival analysis (P = 0.006). Clinical data from our study suggested that in  BAG3  mutation carriers acute onset DCM with hemodynamic compromise may be triggered by infection.    Conclusions   BAG3  point mutations and large deletions are relatively frequent cause of DCM. Delayed DCM onset associated with truncating vs. non-truncating mutations may be important for genetic counseling.

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation