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Case Reports
. 2011 Jul;18(7):1021-3.
doi: 10.1111/j.1468-1331.2010.03240.x. Epub 2010 Oct 18.

Abnormal Expression of Dysferlin in Skeletal Muscle and Monocytes Supports Primary Dysferlinopathy in Patients With One Mutated Allele

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Case Reports

Abnormal Expression of Dysferlin in Skeletal Muscle and Monocytes Supports Primary Dysferlinopathy in Patients With One Mutated Allele

M Meznaric et al. Eur J Neurol. .

Abstract

Background: In some cases, a definitive confirmation of dysferlinopathy cannot be achieved by DNA test, because the mutation is detected in one allele only.

Patients and methods: DYSFERLIN expression in skeletal muscle and peripheral blood monocytes (PBM) was studied by Western blot in two unrelated adult patients. The comparative C(T) method (ΔΔC(T) ) was used to calculate relative changes in dysferlin mRNA determined from real-time quantitative PCR experiments. The dysferlin gene was studied by direct sequencing of cDNA and genomic DNA and by Multiplex Ligation-dependent Probe Amplification (MLPA) analysis.

Results: A comparable severe reduction in dysferlin was demonstrated in both skeletal muscle and PBM. The expression of dysferlin mRNA was significantly reduced. A novel mutation in exon 47 (c.5289G>C) of the dysferlin gene in the heterozygous state, causing an amino acid change (p.Glu1763Asp), was detected in both patients. The MLPA analysis did not reveal any deletion or duplication.

Conclusions: Dysferlin and/or dysferlin mRNA abnormalities are diagnostic for dysferlinopathy when mutational analysis detects a mutation in one allele only. Analysis of dysferlin mRNA can be helpful for distinguishing symptomatic heterozygotes from such patients.

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