Arising from: Awad MM et al. (2008) Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Prac Cardiovasc Med 5: 258–267 doi:10.1038/ncpcardio1182

Authors' response: Judge D (2008) E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Prac Cardiovasc Med doi:10.1038/ncpcardio1351

A Review on the molecular genetics of the arrhythmogenic right ventricular cardiomyopathy (ARVC) was recently published in this journal.1 In figure 2 of this article different mutations are summarized, which are related to the development of this disease.

In our center we are analysing mutations of cardiomyopathies and especially of ARVC since a couple of years. We recently sequenced the gene desmoglein 2 in an ARVC-patient for diagnostic purposes. We identified in the DNA of the patient the heterozygous aminoacid exchange E713K in the ICS domain of the protein (NCBI accession NM 001943). This mutation corresponds to E712K mentioned in figure 2 of your article.

As a control we designed a Taqman assay for the polymophism c.2137 G>A (corresponding to p.E713K) and tested 86 blood donors, since the patient did not show any other relevant SNP in ARVC related genes. We found that 17% of the blood donors were carrier of this SNP (s. table), which was in addition confirmed by Sanger sequencing of a subgroup of alleles.

Table 1
Full size table

The prevalence of the disease is given as 0.06-0.44% (OMIM #107970), which is magnitudes below the prevalence of the SNP in our controls. We therefore conclude, that this SNP is definitely not responsible for the disease of the patient. We understand that it is challenging to summarize the relevant mutations in a figure of this excellent review. However, since these data might have impact for genetic counselling we recommend a correction of the article.