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Research Article Free access | 10.1172/JCI119028

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

S Chavanas, L Pulkkinen, Y Gache, F J Smith, W H McLean, J Uitto, J P Ortonne, and G Meneguzzi

U385 INSERM, Faculté de Médecine, Nice, France.

Find articles by Chavanas, S. in: PubMed | Google Scholar

U385 INSERM, Faculté de Médecine, Nice, France.

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U385 INSERM, Faculté de Médecine, Nice, France.

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U385 INSERM, Faculté de Médecine, Nice, France.

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U385 INSERM, Faculté de Médecine, Nice, France.

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U385 INSERM, Faculté de Médecine, Nice, France.

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U385 INSERM, Faculté de Médecine, Nice, France.

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U385 INSERM, Faculté de Médecine, Nice, France.

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Published November 15, 1996 - More info

Published in Volume 98, Issue 10 on November 15, 1996
J Clin Invest. 1996;98(10):2196–2200. https://doi.org/10.1172/JCI119028.
© 1996 The American Society for Clinical Investigation
Published November 15, 1996 - Version history
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Abstract

Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have recently reported that the skin and muscles of three patients affected by epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), a genetic disorder characterized by skin blistering associated with muscle involvement, are not reactive with antibodies specific to plectin. We demonstrated that in the skin, lack of plectin leads to failure of keratin filaments to connect to the plasma membrane via the hemidesmosomes, whereas in the muscle the deficient expression of the molecule correlates with an aberrant localization of desmin in the muscle fibers. In this study we demonstrate that in a MD-EBS kindred with two affected members, the disease results from a homozygous nonsense mutation in the plectin (PLEC1) gene leading to a premature stop codon (CGA to TGA) and decay of the aberrant plectin messenger RNA. The segregation of the mutated allele implicates the mutation in the pathology of the disorder. These results confirm the critical role of plectin in providing cell resistance to mechanical stresses both in the skin and the muscle.

Version history
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