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

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

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

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	7-17
Number of pages	11
Journal	Acta Myologica
Volume	32
Issue number	1
Publication status	Published - 2013

Keywords

Lamin A/C
Laminopathies
LMNA overlapping syndromes

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine
Medicine(all)

Cite this

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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.",

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AU - Carboni, Nicola

AU - Politano, Luisa

AU - Floris, Matteo

AU - Mateddu, Anna

AU - Solla, Elisabetta

AU - Olla, Stefania

AU - Maggi, Lorenzo

AU - Maioli, Maria Antonietta

AU - Piras, Rachele

AU - Cocco, Eleonora

AU - Marrosu, Giovanni

AU - Marrosu, Maria Giovanna

PY - 2013

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N2 - 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.

AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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