A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
Lamins are the principal components of the nuclear lamina, a network constituting the major structural framework of the nuclear envelope. Alterations in lamin A/C have been associated with a heterogeneous series of human disorders known as laminopathies. We report the finding of a novel deletion in the central rod domain of lamin A/C exon 3 gene in four members of the same family. This genetic alteration was likely responsible for the relatively homogeneous clinical phenotype observed in our three patients, represented by a prominent cardiac conduction-system disease necessitating permanent pacemaker implantation, and limited skeletal involvement manifested by spinal rigidity and contractures. The findings from these cases further expand the clinical spectrum associated with mutations in the LMNA gene.
Maioli
Maria Antonietta
MA
Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari, Italy.
Marrosu
Giovanni
G
Mateddu
Anna
A
Solla
Elisabetta
E
Carboni
Nicola
N
Tacconi
Paolo
P
Lai
Carlo
C
Marrosu
Maria Giovanna
MG
D000328:Adult; D003286:Contracture / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006329:Heart Conduction System / Q000503:physiopathology*; D006331:Heart Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009127:Muscle Rigidity / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary / Q000235:genetics
D034904:Lamin Type A