title: Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.
abstract: In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). We applied a candidate gene approach and identified a novel one nucleotide deletion, resulting in frame shift and predicted formation of a premature stop codon, deletion of part of exon 7 and all exon 8, and truncation of significant C-terminal portion of TNNI3. Western blot analysis showed approximately 50% reduction of total troponin I content in myocardial tissue. The clinical hallmark was a restrictive type of cardiac hemodynamics, and congestive heart failure, leading to the death of the patient at the age of 28.
authors.forename: Anna
authors.initials: A
authors.lastname: Kostareva
authors.forename: Alexandra
authors.initials: A
authors.lastname: Gudkova
authors.forename: Gunnar
authors.initials: G
authors.lastname: Sjöberg
authors.forename: Stellan
authors.initials: S
authors.lastname: Mörner
authors.forename: Eugene
authors.initials: E
authors.lastname: Semernin
authors.forename: Alexander
authors.initials: A
authors.lastname: Krutikov
authors.forename: Eugene
authors.initials: E
authors.lastname: Shlyakhto
authors.forename: Thomas
authors.initials: T
authors.lastname: Sejersen
mesh_terms: D000328:Adult; D001483:Base Sequence; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics*; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide