title: Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients.
abstract: We sequenced the coding exons of the cardiac troponins T (TNNT2) and I (TNNI3) genes in 115 Spanish HCM-patients (32% with a family history of the disease). Only two (2%) had mutations in the TNNT2 (Arg278>Cys and Arg92>Lys). These mutations were associated with variable clinical outcomes. No patient had TNNI3-mutation. We also genotyped these patients and 320 healthy controls for a 5 bp insertion/deletion (I/D) polymorphism in intron 3 of TNNT2. DD-homozygotes for the 5 bp I/D polymorphism were significantly more frequent among the patients (OR=1.83, 95% CI=2.10-5.16).
authors.forename: Mónica
authors.initials: M
authors.lastname: García-Castro
authors.forename: Julián R
authors.initials: JR
authors.lastname: Reguero
authors.forename: César
authors.initials: C
authors.lastname: Morís
authors.forename: Cristina
authors.initials: C
authors.lastname: Alonso-Montes
authors.forename: José R
authors.initials: JR
authors.lastname: Berrazueta
authors.forename: Rocío
authors.initials: R
authors.lastname: Sainz
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
mesh_terms: D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D047668:Inteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D012518:Sarcomeres / Q000235:genetics*; D013030:Spain; D019210:Troponin I / Q000235:genetics*; D020107:Troponin T / Q000235:genetics*
chemical_list: D019210:Troponin I; D020107:Troponin T