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Review
. 2018 Jan 1;9(1):249-260.
doi: 10.1080/19491034.2018.1454167.

Lipodystrophic laminopathies: Diagnostic clues

Cristina Guillín-Amarelle  1 , Antía Fernández-Pombo  1 , Sofía Sánchez-Iglesias  1 , David Araújo-Vilar  1
Affiliations
Review

Lipodystrophic laminopathies: Diagnostic clues

Cristina Guillín-Amarelle et al. Nucleus. .

Abstract

The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies). Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. This work summarizes the main clinical features of these syndromes, their associated comorbidities and the clues for the differential diagnosis with other lipodystrophic disorders.

Keywords: LMNA; diagnosis; laminopathies; progeria; type 2 familial partial lipodystrophy.

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Figures

Figure 1.
Figure 1.
Type 2 familial partial lipodystrophy. A: typical phenotype in a 60 years old woman carrying the p. R482Q LMNA variant. B: Calf muscular hypertrophy. C: Phlebomegaly. D: Acanthosis nigricans in neck and axillae.
Figure 2.
Figure 2.
58 year-old women with FPLD2 due to p.N466D LMNA variant (A). One year later 2 large non-encapsulated lipomas appeared over the iliac crests (B).
Figure 3.
Figure 3.
33 years old woman with type 1 familial partial lipodystrophy. No pathogenic variants were found in AGPTA2, AKT2, BANF1, BLM, BSCL2, CAV1, CIDED, ERCC6, ERCC8, FBN1, KCNJ6, LIPE, LMNA, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, WRN, SPRTN and ZMPSTE24 genes.
Figure 4.
Figure 4.
16 years old woman with HGPS due to p.G608G LMNA variant. A. Generalized lipodystrophy. B: Typical facial features of HGPS (alopecia, beaked nose, micrognathia) and leucomelanodermic lesions in neck. C. Dystrophic nails. D: Atypical progeria syndrome in a 16 year old man due to de novo p.T10I LMNA variant.
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References

    1. McKeon FD, Kirschner MW, Caput D. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature. 1986;319(6053):463–8. - PubMed
    1. Prokocimer M, Davidovich M, Nissim-Rafinia M, et al.. Nuclear lamins: key regulators of nuclear structure and activities. J Cell Mol Med. 2009;13(6):1059–85. - PMC - PubMed
    1. Stuurman N, Heins S, Aebi U. Nuclear lamins: their structure, assembly, and interactions. J Struct Biol. 1998;122(1–2):42–66. - PubMed
    1. Dorner D, Gotzmann J, Foisner R. Nucleoplasmic lamins and their interaction partners, LAP2alpha, Rb, and BAF, in transcriptional regulation. FEBS J. 2007;274(6):1362–73. - PubMed
    1. Gerace L, Blobel G. The nuclear envelope lamina is reversibly depolymerized during mitosis. Cell. 1980;19(1):277–87. - PubMed

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