| Autor: |
I. Gomez-Milanes, Francisco Ruiz-Espejo, Juan José Sánchez-Muñoz, David López-Cuenca, Martin Ortiz-Genga, Lorenzo Monserrat, María José Oliva-Sandoval, Juan R. Gimeno, José María López-Ayala |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Clinical Genetics. 88:172-176 |
| ISSN: |
0009-9163 |
| DOI: |
10.1111/cge.12458 |
| Popis: |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an important cause of malignant arrhythmia and sudden death particularly in young people. Although it is considered a desmosomal disease, mutations in non-desmosomal genes have also been identified. We report on a family where a mutation in LDB3 is associated with this condition. The index case and first and second degree relatives underwent a complete clinical evaluation: physical examination, electrocardiography (ECG), signal-averaged ECG, 2D echocardiogram, cardiac magnetic resonance and 24-h monitoring. After ruling out mutations in the five desmosomal genes, genetic testing by means of Next Generation Sequencing was carried out on the proband. A heterozygous missense mutation in LDB3 c.1051A>G was identified. This result was confirmed by subsequent Sanger DNA sequencing. Another six carriers were identified amongst her relatives. Three subjects fulfilled the criteria for a definitive diagnosis of ARVC and one reached a borderline diagnosis. In conclusion, this is the first family with ARVC where a mutation in LDB3 is associated with ARVC. Next generation sequencing arises as a particular useful tool to point to new causative genes in ARVC. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
Plný text