Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy
| العنوان: | Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy |
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| المؤلفون: | Eline A. Nannenberg, R. N. W. Hauer, van den Maarten Berg, Jan G. Post, van Isabelle Gelder, A. A. M. Wilde, van Peter Tintelen, I. A. W. Van Rijsingen, Judith A. Groeneweg, R. de Ruiter, van der Paul Zwaag, van der Pim Harst |
| المساهمون: | ACS - Amsterdam Cardiovascular Sciences, Cardiology, Human Genetics, Other departments, Ethical, Legal, Social Issues in Genetics (ELSI), Cardiovascular Centre (CVC) |
| المصدر: | Netherlands Heart Journal Netherlands heart journal, 21(6), 286-293. Bohn Stafleu van Loghum Netherlands Heart Journal, 21(6), 286-293. Bohn, Stafleu, Van Loghum |
| بيانات النشر: | Bohn Stafleu van Loghum, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Proband, RIGHT-VENTRICULAR CARDIOMYOPATHY, medicine.medical_specialty, Cardiomyopathy, Population, Gene mutation, PLN, FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, DISEASE, CLASSIFICATION, Internal medicine, medicine, Genetics, CARDIOVASCULAR MORBIDITY, Family history, education, Founder mutation, POPULATION, CARDIOLOGY, education.field_of_study, DCM, business.industry, medicine.disease, DILATED CARDIOMYOPATHY, Phospholamban, ARVC/D, Cohort, Mutation (genetic algorithm), Cardiology, HEART-FAILURE, Original Article, business, Cardiology and Cardiovascular Medicine, GENE-MUTATIONS |
| الوصف: | Background Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in the phospholamban (PLN) gene can be identified in 10–15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The arrhythmogenic burden of the p.Arg14del mutation was illustrated by the high rate of appropriate ICD discharges and a positive family history for sudden cardiac death. Methods Our goal was to evaluate the geographical distribution and the origin of this specific mutation in the Netherlands and to get an estimation of the prevalence in a Dutch population cohort. Therefore, we investigated the postal codes of the places of residence of PLN p.Arg14del mutation carriers and places of birth of their ancestors. In addition, a large population-based cohort (PREVEND) was screened for the presence of this mutation. Results By April 2012, we had identified 101 probands carrying the PLN p.Arg14del mutation. A total of 358 family members were also found to carry this mutation, resulting in a total of 459 mutation carriers. The majority of mutation carriers live in the northern part of the Netherlands and analysing their grandparents’ places of birth indicated that the mutation likely originated in the eastern part of the province of Friesland. In the PREVEND cohort we identified six heterozygous PLN p.Arg14del mutation carriers out of 8,267 subjects (0.07 %). Conclusion The p.Arg14del mutation in the PLN gene is the most frequently identified mutation in Dutch cardiomyopathy patients. The mutation that arose 575–825 years ago is likely to have originated from the eastern part of the province of Friesland and is highly prevalent in the general population in the northern part of the Netherlands. |
| اللغة: | English |
| تدمد: | 1876-6250 1568-5888 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5b4877fb9bdc98a5da7526d11d914dTest http://europepmc.org/articles/PMC3661879Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ad5b4877fb9bdc98a5da7526d11d914d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18766250 15685888 |
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