Novel and Ultrarare Heterozygous Missense <i>LMNA</i> Variants Causing Familial Partial Lipodystrophy
Our data provide further supporting evidence for the pathogenicity of 2 previously reported ultrarare heterozygous LMNA variants, p.N466D and p.K515E. We also report 2 novel variants, p.R582S and p.L241P, in patients with FPLD2. Thus, our study broadens the spectrum of pathogenic/likely pathogenic LMNA variants in FPLD2.
Authors
- Abhimanyu Garg (ORCID: https://orcid.org/0000-0001-7209-6986)
- anum anum
- Xilong Li (ORCID: https://orcid.org/0000-0002-1833-6077)
Institutions
- Southwestern Medical Center (US)
- Southwestern Medical Center (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-05-09
- DOI
- https://doi.org/10.1210/clinem/dgaf279
- Citations
- 1
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.81