Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.
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.
Kostareva
Anna
A
Gudkova
Alexandra
A
Sjöberg
Gunnar
G
Mörner
Stellan
S
Semernin
Eugene
E
Krutikov
Alexander
A
Shlyakhto
Eugene
E
Sejersen
Thomas
T
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