A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy
| Autor: | Katriina Aalto-Setälä, Maija Kaartinen, John Melin, Keijo Peuhkurinen, Liisa Hämäläinen, Erkki Ilveskoski, Satu Kärkkäinen, Markku Laakso, Tiina Heliö, Pertti Jääskeläinen, Johanna Kuusisto, Markku S. Nieminen |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Heterozygote Population Mutation Missense TPM1 Tropomyosin Biology medicine.disease_cause Sudden death Ventricular Myosins medicine Prevalence Humans education Gene Finland Genetics Mutation education.field_of_study Myosin Heavy Chains Hypertrophic cardiomyopathy Dilated cardiomyopathy General Medicine Cardiomyopathy Hypertrophic Middle Aged medicine.disease MYH7 Female Carrier Proteins Cardiac Myosins |
| Zdroj: | Annals of medicine. 46(6) |
| ISSN: | 1365-2060 |
| Popis: | In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases. Objective. To screen additional mutations, previously identified in eastern Finnish cohorts with HCM, in the FinHCM Study population.Ten mutations in the beta-myosin heavy chain gene (MYH7), TPM1, and MYBPC3 were screened.MYH7-R1053Q was found in 17 of 306 patients (5.6%). No carriers of MYH7-R719W or N696S were found. A novel TPM1-D175G mutation was found in a single patient. MYBPC3 mutations were found in 14 patients: IVS5-2A-C in two, IVS14-13G-A in two, K811del in six, and A851insT in four patients. Altogether, a HCM-causing mutation was identified in 32 patients, accounting for 10.5% of all cases. In addition, two MYBPC3 variants R326Q and V896M with uncertain pathogenicity were found in eight and in 10 patients, respectively.Combining the present findings with our previous results, a causative mutation was identified in 28% of the FinHCM cohort. MYH7-R1053Q was the third most common mutation, and should be screened in all new cases of HCM in Finland. |
| Databáze: | OpenAIRE |
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