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| Item Type: | Article |
|---|---|
| Title: | Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy |
| Creators Name: | Toste, A. and Perrot, A. and Özcelik, C. and Cardim, N. |
| Abstract: | INTRODUCTION AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is a genetically and phenotypically heterogeneous disease; there is still a large proportion of patients with no identified disease-causing mutation. Although the majority of mutations are found in the MYH7 and MYBPC3 genes, mutations in Z-disk-associated proteins have also been linked to HCM. METHODS: We assessed a small family with HCM based on family history, physical examination, 12-lead ECG, echocardiogram and magnetic resonance imaging. After exclusion of mutations in eleven HCM disease genes, we performed direct sequencing of the TCAP gene encoding the Z-disk protein titin-cap (also known as telethonin). RESULTS: We present a novel TCAP mutation in a small family affected by HCM. The identified p.C57W mutation showed a very low population frequency, as well as high conservation across species. All of the bioinformatic prediction tools used considered this mutation to be damaging/deleterious. Family members were screened for this new mutation and a co-segregation pattern was detected. Both affected members of this family presented with late-onset HCM, moderate asymmetric left ventricular hypertrophy, atrial fibrillation and heart failure with preserved ejection fraction and low risk of sudden cardiac death. CONCLUSIONS: We present evidence supporting the classification of the TCAP p.C57W mutation, encoding the Z-disk protein titin-cap/telethonin as a new likely pathogenic variant of hypertrophic cardiomyopathy, with a specific phenotype in the family under analysis. |
| Keywords: | Hypertrophic Cardiomyopathy, TCAP Mutation, Titin-Cap, Telethonin, Likely Pathogenic Variant |
| Source: | Revista Portuguesa de Cardiologia |
| ISSN: | 0870-2551 |
| Publisher: | Elsevier |
| Volume: | 39 |
| Number: | 6 |
| Page Range: | 317-327 |
| Date: | June 2020 |
| Official Publication: | https://doi.org/10.1016/j.repc.2019.12.007 |
| PubMed: | View item in PubMed |
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