Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy.

Nadine Norton, Jill D. Siegfried, Duanxiang Li, Ray E. Hershberger

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

The contribution of copy number variation (CNV) to dilated cardiomyopathy (DCM) is unknown. However, estimates have suggested that CNVs could constitute 15% of mutations underlying Mendelian disease. This is of particular relevance to DCM, where only approximately 35% of genetic cause has been identified. We have previously reported 19 point mutations in LMNA, the gene encoding Lamin A/C, in a cohort of 324 unrelated DCM probands (5.9%), making it the most common genetic cause of DCM. Recently a large deletion was reported in LMNA in 1 of 25 DCM probands. To further assess the contribution of CNVs in LMNA cardiomyopathy, we used Multiplex Ligation Probe Amplification (MLPA) to screen for large deletions and duplications in 58 DCM probands negative for point mutations in LMNA. Despite excellent quality control and robust MLPA results, our study failed to identify any deletions or duplications. We conclude that at least for LMNA, point mutations are the major source of DCM causation.

Original languageEnglish (US)
Pages (from-to)351-352
Number of pages2
JournalClinical and translational science
Volume4
Issue number5
DOIs
StatePublished - Oct 2011

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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