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A novel mutation in a large French-Canadian family with LGMD1B
- Source :
- Scopus-Elsevier
- Publication Year :
- 2008
-
Abstract
- Background:Limb girdle muscular dystrophy type 1B is an autosomal dominant disease characterized by late onset proximal muscle involvement associated with cardiac complications such as atrioventricular conduction blocks, dilated cardiomyopathy, and sudden death.Objective:Define the full phenotypic spectrum of a new mutation in the LMNA gene causing limb girdle muscular dystrophy type 1B.Methods:We identified a large French Canadian family with the LGMD 1B phenotype and a cardiac conduction disease phenotype that carried a new mutation in the LMNA gene and sought to define its full phenotypic spectrum by performing complete neurological and cardiac evaluations, muscle biopsy, RNA and DNA studies.Results:The proband and 12 living at risk relatives were tested. In total, we identified seven carriers of a new (IVS9-3C>G) LMNA gene mutation. Of the three symptomatic patients, all had cardiac involvement, but only two presented proximal limb weakness. The one available muscle biopsy demonstrated a normally expressed lamin A/C protein, localized at the nuclear envelope. RNA study revealed a loss of exon 10 transcription caused by the IVS9-3C to G splicing mutation.Conclusions:We have identified a new mutations in the LMNA gene in a French-Canadian family. This diagnosis has important implications for affected patients and their siblings since they may eventually require pacemaker implantation.
- Subjects :
- Adult
Male
medicine.medical_specialty
Reference Values
RNA analysis
Medicine
Humans
Atrioventricular Block
Aged
Gynecology
business.industry
Amino acid substitution
General Medicine
DNA
Middle Aged
Lamin Type A
Pedigree
Alternative Splicing
Neurology
Amino Acid Substitution
Muscular Dystrophies, Limb-Girdle
Reference values
Case-Control Studies
French canadian
RNA
Female
Neurology (clinical)
business
Novel mutation
Subjects
Details
- ISSN :
- 03171671
- Volume :
- 35
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
- Accession number :
- edsair.doi.dedup.....71b1c5a6a3b8182546f0e87a2d385538