title: Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
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.
authors.affiliation: Department of Public Health, Molecular and Cinical Medicine, University of Cagliari, Cagliari, Italy. nikola.carboni@tiscali.it
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.forename: Luisa
authors.initials: L
authors.lastname: Politano
authors.forename: Matteo
authors.initials: M
authors.lastname: Floris
authors.forename: Anna
authors.initials: A
authors.lastname: Mateddu
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Solla
authors.forename: Stefania
authors.initials: S
authors.lastname: Olla
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Maggi
authors.forename: Maria
authors.initials: M
authors.lastname: Antonietta Maioli
authors.forename: Rachele
authors.initials: R
authors.lastname: Piras
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Maria
authors.initials: M
authors.lastname: Giovanna Marrosu
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005807:Genes, Overlapping; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008060:Lipodystrophy / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D013577:Syndrome
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D004247:DNA
keywords: LMNA overlapping syndromes; Lamin A/C; laminopathies