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BMC Med Genet. 2013 Jul 2;14:68. doi: 10.1186/1471-2350-14-68.

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

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  • 1Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

Abstract

BACKGROUND:

Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant-negative effects. However, the complete genotypic spectrum of desminopathy is not well established.

CASE PRESENTATION:

Next-generation sequencing was performed on 51 cardiac disease genes in a proband with profound skeletal myopathy, dilated cardiomyopathy, and respiratory dysfunction. Our analyses revealed compound heterozygous DES variants, both of which are predicted to lead to a loss-of-function. Consistent with recessive inheritance, each variant was identified in an unaffected parent.

CONCLUSIONS:

This case report serves to broaden the variant spectrum of desminopathies and provides insight into the molecular mechanisms of desminopathy, supporting distinct dominant-negative and loss-of-function etiologies.

PMID:
23815709
[PubMed - indexed for MEDLINE]
PMCID:
PMC3711885
Free PMC Article
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