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Partial Lipodystrophy and LMNA p.R545H Variant
Article

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

1
UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain
2
Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
3
CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), 28029 Madrid, Spain
4
Division of Internal Medicine, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
5
Epigenomics in Endocrinology and Nutrition Group, Epigenomics Unit, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
*
Author to whom correspondence should be addressed.
These authors contributed equally to this manuscript.
Academic Editor: Katrien Benhalima
J. Clin. Med. 2021, 10(6), 1259; https://doi.org/10.3390/jcm10061259
Received: 25 January 2021 / Revised: 9 March 2021 / Accepted: 15 March 2021 / Published: 18 March 2021
Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the LMNA gene are considered to have the classic disease, whereas those with variants in other exons manifest the “atypical” disease. The aim of this study was to investigate the degree of variable expressivity when comparing patients carrying the R482 and N466 variants in exon 8. Thus, 47 subjects with FPLD2 were studied: one group of 15 patients carrying the N466 variant and the other group of 32 patients with the R482 variant. Clinical, metabolic, and body composition data were compared between both groups. The thigh skinfold thickness was significantly decreased in the R482 group in comparison with the N466 group (4.2 ± 1.8 and 5.6 ± 2.0 mm, respectively, p = 0.002), with no other differences in body composition. Patients with the N466 variant showed higher triglyceride levels (177.5 [56–1937] vs. 130.0 [55–505] mg/dL, p = 0.029) and acute pancreatitis was only present in these subjects (20%). Other classic metabolic abnormalities related with the disease were present regardless of the pathogenic variant. Thus, although FPLD2 patients with the R482 and N466 variants share most of the classic characteristics, some phenotypic and metabolic differences suggest possible heterogeneity even within exon 8 of the LMNA gene. View Full-Text
Keywords: lipodystrophy; Dunnigan disease; LMNA; laminopathies; body composition; DXA; variable expressivity lipodystrophy; Dunnigan disease; LMNA; laminopathies; body composition; DXA; variable expressivity
MDPI and ACS Style

Araújo-Vilar, D.; Sánchez-Iglesias, S.; Castro, A.I.; Cobelo-Gómez, S.; Hermida-Ameijeiras, Á.; Rodríguez-Carnero, G.; Casanueva, F.F.; Fernández-Pombo, A. Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene. J. Clin. Med. 2021, 10, 1259. https://doi.org/10.3390/jcm10061259

AMA Style

Araújo-Vilar D, Sánchez-Iglesias S, Castro AI, Cobelo-Gómez S, Hermida-Ameijeiras Á, Rodríguez-Carnero G, Casanueva FF, Fernández-Pombo A. Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene. Journal of Clinical Medicine. 2021; 10(6):1259. https://doi.org/10.3390/jcm10061259

Chicago/Turabian Style

Araújo-Vilar, David, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Gemma Rodríguez-Carnero, Felipe F. Casanueva, and Antía Fernández-Pombo. 2021. "Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene" Journal of Clinical Medicine 10, no. 6: 1259. https://doi.org/10.3390/jcm10061259

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