title: Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
abstract: The aim of this study is to report the evolution of a phenotype in members of a single family carrying the heterozygous exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation. All mutated family members underwent neurological and cardiological assessments for a period ranging from 10 to 20 years. At onset, 4 affected adult members presented a phenotype that required pacemaker implantation. Three subjects underwent cardiac transplantation leading to long-term survival in 2 of them. One of the 3 longest surviving relatives manifested late lipodystrophy, and the other 2 had lipodystrophy, insulin-resistant diabetes, and distal peripheral neuropathy. The findings demonstrate that the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation is associated with a novel phenotype featuring cardiac involvement followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy.
authors.affiliation: Neuromuscular Unit, Department of Cardiological and Neurological Sciences, University of Cagliari, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari, Italy. nikola.carboni@tiscali.it
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Porcu
authors.forename: Marco
authors.initials: M
authors.lastname: Mura
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Maria A
authors.initials: MA
authors.lastname: Maioli
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Solla
authors.forename: Stefania
authors.initials: S
authors.lastname: Tranquilli
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Orrù
authors.forename: Maria G
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000293:Adolescent; D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008060:Lipodystrophy / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D004247:DNA