Abstract
Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of the human plectin gene on chromosome 8q24. Here, we report a 3-year-old girl, offspring of a consanguineous Lebanese family, who presented with skin blistering and recurrent episodes of severe respiratory distress necessitating tracheotomy at the age of 2 years. Repeated examination did not provide any evidence of muscle involvement. Indirect immunofluorescence analysis of a diagnostic skin biopsy with four different domain specific plectin antibodies showed a complete absence of plectin staining. Mutation analysis revealed a novel homozygous single guanine insertion mutation (5588insG/5588insG) residing in the N-terminal part of exon 31 of the plectin gene. Conclusion: The complete lack of protein expression, which may be attributed to a nonsense-mediated plectin mRNA decay, is likely to cause muscular dystrophy and other multisystem involvement later in life.
| Original language | English |
|---|---|
| Journal | European Journal of Pediatrics |
| Volume | 163 |
| Issue number | 4-5 |
| Pages (from-to) | 218-222 |
| Number of pages | 5 |
| ISSN | 0340-6199 |
| DOIs | |
| Publication status | Published - 04.2004 |
Funding
Acknowledgements We thank Dr. C. Kubisch, Institute of Human Genetics, Bonn, for helpful discussions and Christa Knaus, Würzburg, for help with the immunofluorescence studies. This work was supported in part by a grant from German Ministry for Education and Research (BMBF) for the ‘‘Network for rare diseases: epidermolysis bullosa (grant Nr. 01GM0301, L. B-T.) and muscular dystrophies (grant Nr. 01GM0302, R.S.). The work on plectin mutation analysis was supported by the NIH/NIAMS grant P01-AR38923.
