Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
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.
Carboni
Nicola
N
Neuromuscular Unit, Department of Cardiological and Neurological Sciences, University of Cagliari, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari, Italy. nikola.carboni@tiscali.it
Porcu
Maurizio
M
Mura
Marco
M
Cocco
Eleonora
E
Marrosu
Giovanni
G
Maioli
Maria A
MA
Solla
Elisabetta
E
Tranquilli
Stefania
S
Orrù
Pierpaolo
P
Marrosu
Maria G
MG
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
C494847:LMNA protein, human; D034904:Lamin Type A; D004247:DNA