Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy
In a case of sporadic partial lipodystrophy, we describe two concurrent <i>de novo</i> pathogenic variants within the same gene (<i>LMNA</i>) as a novel pathogenic mechanism. This finding expands the genetic and phenotypic spectrum of partial lipodystrophy and laminopathy syndromes.
Authors
- Carlos F. Lagos (ORCID: https://orcid.org/0000-0002-5432-9747)
- Patricio Miranda (ORCID: https://orcid.org/0000-0002-8270-1112)
- Vı́ctor Cortés (ORCID: https://orcid.org/0000-0002-1658-0965)
- José Luis Santos (ORCID: https://orcid.org/0000-0003-2895-0369)
Institutions
- Pontificia Universidad Católica de Chile (CL)
- Universidad Pública de Navarra (UPNA) (ES)
- San Sebastián University (CL)
- Fundación Ciencia and Vida (CL)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-11-28
- DOI
- https://doi.org/10.3389/fgene.2024.1468878
- Citations
- 1
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Agencia Nacional de Investigación y Desarrollo
- Instituto de Salud Carlos III
- European Regional Development Fund
- Fondo Nacional de Desarrollo Científico, Tecnológico y de Innovación Tecnológica