title: A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
abstract: BACKGROUND
  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.
  
  
  METHODS
  Ten mutations in the beta-myosin heavy chain gene (MYH7), TPM1, and MYBPC3 were screened.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Heart Center,Kuopio University Hospital , Kuopio , Finland.
authors.forename: Pertti
authors.initials: P
authors.lastname: Jääskeläinen
authors.forename: Tiina
authors.initials: T
authors.lastname: Heliö
authors.forename: Katriina
authors.initials: K
authors.lastname: Aalto-Setälä
authors.forename: Maija
authors.initials: M
authors.lastname: Kaartinen
authors.forename: Erkki
authors.initials: E
authors.lastname: Ilveskoski
authors.forename: Liisa
authors.initials: L
authors.lastname: Hämäläinen
authors.forename: John
authors.initials: J
authors.lastname: Melin
authors.forename: Satu
authors.initials: S
authors.lastname: Kärkkäinen
authors.forename: Keijo
authors.initials: K
authors.lastname: Peuhkurinen
authors.forename: Markku S
authors.initials: MS
authors.lastname: Nieminen
authors.forename: Markku
authors.initials: M
authors.lastname: Laakso
authors.forename: Johanna
authors.initials: J
authors.lastname: Kuusisto
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D005387:Finland / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D015995:Prevalence; D014335:Tropomyosin / Q000235:genetics; D024723:Ventricular Myosins / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D014335:Tropomyosin; D024723:Ventricular Myosins; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human; C490775:TPM1 protein, human
keywords: Alpha-tropomyosin; Finland; beta-myosin heavy chain; cardiac myosin-binding protein C; genetics; hypertrophic cardiomyopathy