Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 May;32(1):7-17.

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature

Nicola Carboni  1 , Luisa Politano, Matteo Floris, Anna Mateddu, Elisabetta Solla, Stefania Olla, Lorenzo Maggi, Maria Antonietta Maioli, Rachele Piras, Eleonora Cocco, Giovanni Marrosu, Maria Giovanna Marrosu
Affiliations
Review

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature

Nicola Carboni et al. Acta Myol. 2013 May.

Abstract

Mutations on the LMNA gene are responsible for an heterogeneous group of diseases. Overlapping syndromes related to LMNA gene alterations have been extensively reported. Study scope is to perform a systematic analysis of the overlapping syndromes so far described and to try to correlate the clinical features to the associated genetic alterations. We evaluated all the dominant overlapping syndromes reported by means of a PubMed search and by the analysis of the main databases containing the pathogenic LMNA gene variations and the associated diseases. Metabolic alterations in association to skeletal and/or cardiac alterations proved to be the most frequent overlap syndrome. Overlapping syndromes are mostly associated to inframe mutations in exons 1, 2, 8 and 9. These data further improve the understanding of the pathogenesis of laminopathies.

Keywords: LMNA overlapping syndromes; Lamin A/C; laminopathies.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Causative missense mutations in the context of the lamin A/C protein organization and related overlapping syndromes.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Bonne G. Karpati G. Structural and Molecular Basis of Skeletal Muscle Diseases, chapter 3. Basel, Switzerland: ISN Neuropath Press; 2002. Disease associated with myonuclear abnormalities: defects of nuclear membrane related proteins (emerin, lamins a/c) pp. 48–56.
    1. Dittmer T, Misteli T. The lamin protein family. Genome Biology. 2011;2011:222–222. - PMC - PubMed
    1. Strelkov SV, Herrmann H, Aebi U. Molecular architecture of intermediate filaments. Bio Essays. 2003;25:243–251. - PubMed
    1. Strelkov SV, Schumacher J, Burkhard P, et al. Crystal structure of the human lamin a coil 2B dimer: implications for the head-to-tail association of nuclear lamins. J Mol Biol. 2004;343:1067–1080. - PubMed
    1. Brown CA, Lanning RW, McKinney KQ, et al. Novel and recurrent mutations in lamin A/C in patients with Emery–Dreyfuss muscular dystrophy. Am J Med Genet. 2001;102:359–367. - PubMed