Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Acta Myol
; 32(1): 7-17, 2013 May.
Article
em En
| MEDLINE
| ID: mdl-23853504
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Homologia de Genes
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Lamina Tipo A
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Lipodistrofia
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Mutação
Tipo de estudo:
Systematic_reviews
Limite:
Humans
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article