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      A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

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          Abstract

          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.

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          Author and article information

          Journal
          Clin. Genet.
          Clinical genetics
          Wiley
          1399-0004
          0009-9163
          Aug 2015
          : 88
          : 2
          Affiliations
          [1 ] Department of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, Spain.
          [2 ] A Coruña Biomedical Research Institute, A Coruña University Hospital, A Coruna, Spain.
          [3 ] Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, Murcia, Spain.
          Article
          10.1111/cge.12458
          25041374
          92a3910b-2cfa-42c8-8527-5334973646ed
          History

          arrhythmogenic right ventricular cardiomyopathy,next generation sequencing,Cypher/ZASP,LDB3

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