Follow the LINE: A novel case of dilated cardiomyopathy caused by a LINE-1 insertion in the <i>TTN</i> gene
This case expands the mutational spectrum of TTN protein-truncating variants. It also underscores the importance of recognizing rarer types of pathogenic variants (eg, MEIs) to produce accurate genetic diagnostics.
Authors
- Erik C. Thorland
- Ross Rowsey
- Michelle L. Kluge
- Nicole L. Hoppman
- Qiliang Ding (ORCID: https://orcid.org/0000-0003-1771-2891)
- Sarah Thieke
- Ann M. Moyer (ORCID: https://orcid.org/0000-0003-2590-7218)
- Frank T Hoffman
- Linnea M. Baudhuin (ORCID: https://orcid.org/0000-0003-4230-5032)
- Cherisse A. Marcou (ORCID: https://orcid.org/0000-0002-9722-7492)
- Alessia Buglioni (ORCID: https://orcid.org/0009-0008-6365-0859)
- Rhonda K. Kuennen
- J. Fine
Institutions
- Mayo Clinic (US)
- Goryeb Children's Hospital (US)
- Mayo Clinic in Arizona (US)
Publication Details
- Journal
- American Journal of Clinical Pathology
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1093/ajcp/aqae170
- Citations
- 1
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.40