title: Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy.
abstract: Mutations in troponin T (TNNT2) gene represent the important part of currently identified disease-causing mutations in hypertrophic (HCM) and dilated (DCM) cardiomyopathy. The aim of this study was to analyze TNNT2 gene exons in patients with HCM and DCM diagnosis to improve diagnostic and genetic consultancy in affected families. All 15 exons and their flanking regions of the TNNT2 gene were analyzed by DNA sequence analysis in 174 patients with HCM and DCM diagnosis. We identified genetic variations in TNNT2 exon regions in 56 patients and genetic variations in TNNT2 intron regions in 164 patients. Two patients were found to carry unique mutations in the TNNT2 gene. Limited genetic screening analysis is not suitable for routine testing of disease-causing mutations in patients with HCM and DCM as only individual mutation-positive cases may be identified. Therefore, this approach cannot be recommended for daily clinical practice even though, due to financial constraints, it currently represents the only available strategy in a majority of cardio-centers.
authors.affiliation: Institute of Clinical Chemistry and Laboratory Diagnostics, Charles University, Prague, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Jáchymová
authors.forename: A
authors.initials: A
authors.lastname: Muravská
authors.forename: T
authors.initials: T
authors.lastname: Paleček
authors.forename: P
authors.initials: P
authors.lastname: Kuchynka
authors.forename: H
authors.initials: H
authors.lastname: Řeháková
authors.forename: S
authors.initials: S
authors.lastname: Magage
authors.forename: A
authors.initials: A
authors.lastname: Král
authors.forename: T
authors.initials: T
authors.lastname: Zima
authors.forename: K
authors.initials: K
authors.lastname: Horký
authors.forename: A
authors.initials: A
authors.lastname: Linhart
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics; D015331:Cohort Studies; D005091:Exons; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA; D020107:Troponin T / Q000235:genetics*
chemical_list: C545568:TNNT2 protein, human; D020107:Troponin T