Phenotypic Diversity Caused by the <i>DES</i> Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect
In summary, we present and characterize a likely pathogenic missense mutation <i>DES</i>-p.R127P, which causes high cardiac mortality and morbidity in the described family. Our study has relevance for the interpretation and classification of further <i>DES</i> variants and might be helpful for the genetic counseling of patients and their relatives in future cases.
Authors
- Volker Walhorn (ORCID: https://orcid.org/0000-0003-0720-8122)
- Andreas Brodehl (ORCID: https://orcid.org/0000-0001-9202-2343)
- Naser M. Ali (ORCID: https://orcid.org/0000-0002-7824-5169)
- Hendrik Milting (ORCID: https://orcid.org/0000-0001-9722-0007)
- Mohammad A. Ebrahim
- Stephanie Holler (ORCID: https://orcid.org/0009-0007-6615-0940)
- Dario Anselmetti (ORCID: https://orcid.org/0000-0002-8720-4369)
- Buthaina Albash
- Sabrina Voß (ORCID: https://orcid.org/0000-0002-6465-5167)
- N N Ahmad
- Ali H. Al Sayegh
- Franziska Klag (ORCID: https://orcid.org/0009-0007-8015-7794)
Institutions
- Bielefeld University (DE)
- Adan Hospital (KW)
- Heart and Diabetes Center North Rhine-Westphalia (DE)
- Chest Diseases Hospital (KW)
- Ministry of Health (KW)
- Department for Infrastructure (GB)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-04-23
- DOI
- https://doi.org/10.1161/circgen.124.004896
- Citations
- 11
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 12.67