title: [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HC) is the most frequent cardiac hereditary disease, caused by mutations in sarcomere protein coding genes. Although more than 430 mutations have been identified in several continents and countries, there have been no reports of mutations in Brazil.
  
  
  OBJECTIVE
  To carry out a genetic study to identify genetic mutations that cause HC in a group of patients in Espirito Santo, Brazil.
  
  
  METHODS
  Using the SSCP technique, 12 exons from the three main genes involved in HC were studied: exons 15, 20, 21, 22 and 23 of the beta-myosin heavy chain gene (MYH7), exons 7, 16, 18, 22 and 24 of the myosin binding protein C gene (MYBPC3) and exons 8 and 9 of troponin T gene (TNNT2).
  
  
  RESULTS
  16 alterations were found, including two mutations, one of them possibly pathogenic in the MYBPC3 gene (p. Glu441Lys) and another pathogenic one, previously described in the TNNT2 gene (p.Arg92Trp), 8 rare sequence variations and 6 sequence variations with allelic frequency higher than 1% (polymorphisms).
  
  
  CONCLUSIONS
  These data allow the conclusion that the genotyping of patients is feasible in our country. It is possible that the isolated p.Glu441Lys variant identified in exon 16 of the MYBPC3 gene is pathogenic, promoting a milder phenotype than that found when in association with other mutations. The p.Arg92Trp variant in the exon 9 of TNNT2 gene does not promote such a homogeneous phenotype as previously described and it can lead to severe hypertrophy.
authors.affiliation: Universidade Federal do Espírito Santo, Vitória, ES, Brasil. marsigliajdc@yahoo.com.br
authors.forename: Júlia Daher Carneiro
authors.initials: JD
authors.lastname: Marsiglia
authors.forename: Maria do Carmo Pimentel
authors.initials: Mdo C
authors.lastname: Batitucci
authors.forename: Flávia de
authors.initials: Fd
authors.lastname: Paula
authors.forename: Clara
authors.initials: C
authors.lastname: Barbirato
authors.forename: Edmundo
authors.initials: E
authors.lastname: Arteaga
authors.forename: Aloir Queiroz de
authors.initials: AQ
authors.lastname: Araújo
mesh_terms: D001938:Brazil / Q000453:epidemiology; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D020107:Troponin T / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D020107:Troponin T; D000099163:Myosin Binding Protein C; C545568:TNNT2 protein, human