Estimate of the abundance of cardiomyopathic mutations in the β-myosin gene

The steady discovery of new β-myosin mutations causing familial hypertrophic cardiomyopathy (FHCM) suggests that only a fraction of the total number of mutations has been identified so far by clinical screenings. To test this hypothesis, data derived from seven independent genetic studies were re-analyzed using statistical methods developed by ecologists for estimating the number of species in a community. This novel approach reveals that more mutations will continue to be identified as more patients are genotyped, and highlights important differences in the distribution of β-myosin mutations across different populations. Hence, additional molecular sampling will be necessary to complete the census of the β-myosin mutations and facilitate the diagnosis and evaluation of FHCM patients.