Once upon a time 700 years ago…
Mutated PLN is of particular interest as it is a founder mutation, which means it can be traced back to a single or small number of ancestors. As it turns out, PLN-associated heart disease (specifically cardiomyopathy) can be almost completely linked to a Dutch ancestor who lived some… 575-825 years ago! So 6 to 8 centuries ago in Friesland (North of the Netherlands).
PLN reporting in the Netherlands
This genetic disorder has been found in more than 10% of the people suffering from a genetic heart disease in the Netherlands. As shown on the map, you can see where the PLN gene patients are located in the Netherlands so far.
The majority of the Dutch PLN carriers live in the Northern part of the country and the numbers of PLN patients decrease gradually towards the South of the Netherlands.
2012 – This has been confirmed by the University Medical Center Groningen (UMCG, one of the largest hospitals in the Netherlands) after conducting a PLN related cardiomyopathy study.
The PLN mutation is the most frequently identified mutation in cardiomyopathy patients in the Netherlands and the single most identified mutation in cardiomyopathy patients worldwide.
PLN family history…
The PLN gene mutation has also been identified in cohorts in other countries, such as the USA, South Africa, Greece, Poland, Germany, Spain, Belgium and Canada.
Although we have identified the founder effect of the PLN p.Arg14del mutation in the Netherlands, we cannot exclude that its origin is foreign, due to immigration from Germany, Belgium, France or Spain for example, especially considering the age of the mutation.
The emigration in the 19th and early 20th century of PLN p.Arg14del mutation carriers from the Netherlands or from other Northern European countries to the United States and Canada, has likely resulted in the presence of this mutation in North America. Dutch mutation carriers could also have emigrated to South Africa, Australia and New Zealand. The presence of the p.Arg14del mutation needs to be confirmed in genetic studies in these countries.
(1) ARVC = Arrhythmogenic Right Ventricular Cardiomyopathy
(2) Haplotype is a genes group in an organism that are inherited together from a single parent.