title: Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy.
abstract: OBJECTIVE
  Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dominant pattern of inheritance mainly caused by single heterozygous mutations in sarcomere genes. In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM.
  
  
  METHODS
  This case-control study based on genotype-phenotype correlation included 69 patients (mean age, years: 50±13.16) diagnosed with HCM constituting the study group and 50 healthy individuals (mean age, years: 52±1.4) constituting the control group. DNA was extracted from peripheral blood and the genotyping of mutations was performed by real-time PCR technique and high resolution melting analysis. Associations between categoric variables were determined using chi-square tests. Differences between two groups were compared with unpaired Student's t-test for continuous variables.
  
  
  RESULTS
  None of the patients in the HCM group were carrying the index mutations. One healthy individual was found to be heterozygous for the R663H mutation with mildly abnormal IVS and LVPW thickness. The allele frequency for R663H (G>A) mutation was found to be 0.01% in control group.
  
  
  CONCLUSIONS
  We performed a mutational screening of 6 HCM-associated mutations in 69 Turkish HCM patients (not previously studied except R403Q). There was no significant difference in the prevalence of the mutations between the patients with HCM and the healthy controls (p>0.05).
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Ege University; İzmir-Turkey. sevcan.atay@hotmail.com.
authors.forename: Sevcan
authors.initials: S
authors.lastname: Atay
authors.forename: Aslı
authors.initials: A
authors.lastname: Tetik
authors.forename: Vildan
authors.initials: V
authors.lastname: Bozok Çetintaş
authors.forename: Selcen
authors.initials: S
authors.lastname: Yakar Tülüce
authors.forename: Kamil
authors.initials: K
authors.lastname: Tülüce
authors.forename: Meral
authors.initials: M
authors.lastname: Kayıkçıoğlu
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Eroğlu
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004452:Echocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018995:Myosin Heavy Chains / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014421:Turkey; D044465:White People
chemical_list: D017931:DNA Primers; D018995:Myosin Heavy Chains