Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
BACKGROUND
Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford progeria.


METHODS
We used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype 1.


RESULTS
DNA from the proband was analyzed, and a novel 2 base-pair deletion c.908_909delCT in LMNA was identified.


CONCLUSIONS
Mutations in the gene encoding lamin A/C can lead to significant cardiac conduction system disease that can be successfully treated with pacemakers and/or defibrillators. Genetic screening can help assess risk for arrhythmia and need for device implantation.
MacLeod
Heather M
HM
Section of Cardiology, Department of Medicine, University of Chicago, Chicago, IL, USA. hmacleod@medicine.bsd.uchicago.edu
Culley
Mary R
MR
Huber
Jill M
JM
McNally
Elizabeth M
EM
D017398:Alternative Splicing / Q000235:genetics*; D000595:Amino Acid Sequence / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics; D005838:Genotype; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics; D012804:Sick Sinus Syndrome / Q000235:genetics*
D034904:Lamin Type A; C440308:lamin C