RT Journal Article
T1 Variable expressivity in type 2 familial partial lipodystrophy related to R482 and N466 variants in the LMNA gene
A1 Sánchez Iglesias, Sofía
A1 Araujo-Vilar, David
A1 Castro, Ana I.
A1 Cobelo Gómez, Silvia
A1 Hermida Ameijeiras, Álvaro
A1 Rodríguez Carnero, María Gemma
A1 Casanueva Freijo, Felipe
A1 Fernández Pombo, Antía
K1 Lipodystrophy
K1 Dunnigan disease
K1 LMNA
K1 Laminopathies
K1 Body composition
K1 DXA
K1 Variable expressivity
AB 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.
PB MDPI
YR 2021
FD 2021
LK http://hdl.handle.net/10347/32085
UL http://hdl.handle.net/10347/32085
LA eng
NO 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
NO This study was supported by the Instituto de Salud Carlos III and the European RegionalDevelopment Fund, ERDF (grant no. PI081449), and an intramural grant from the Xunta de Galicia,ED431B 2020/37. S.S.-I. was awarded a Research Fellowship, granted by the Asociación Española deFamiliares y Afectados de Lipodistrofias (AELIP).
DS Minerva
RD 22 abr 2026