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

Araújo-Vilar, David; Sánchez-Iglesias, Sofía; Castro, Ana I.; Cobelo-Gómez, Silvia; Hermida-Ameijeiras, Álvaro; Rodríguez-Carnero, Gemma; Casanueva, Felipe F.; Fernández-Pombo, Antía

doi:10.3390/jcm10061259

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

David Araújo-Vilar

^1,2,†,

Sofía Sánchez-Iglesias

^1,†

Ana I. Castro

^2,3,

Silvia Cobelo-Gómez

Álvaro Hermida-Ameijeiras

^1,4

Gemma Rodríguez-Carnero

^2,5,

Felipe F. Casanueva

^2,3

and

Antía Fernández-Pombo

^1,2,*

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

Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain

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

(This article belongs to the Special Issue Infrequent Lipodystrophies: Challenges in Pathogenesis, Diagnosis and Treatment)

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Abstract

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

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

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

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