Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

Ulrike Schara*, Jens Tücke, Wilhelm Mortier, Thomas Nüßlein, Fatima Rouan, Ellen Pfendner, Detlef Zillikens, Leena Bruckner-Tuderman, Jouni Uitto, Gerhard Wiche, Rolf Schröder

*Korrespondierende/r Autor/-in für diese Arbeit
21 Zitate (Scopus)

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.

OriginalspracheEnglisch
ZeitschriftEuropean Journal of Pediatrics
Jahrgang163
Ausgabenummer4-5
Seiten (von - bis)218-222
Seitenumfang5
ISSN0340-6199
DOIs
PublikationsstatusVeröffentlicht - 04.2004

Fingerprint

Untersuchen Sie die Forschungsthemen von „Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation“. Zusammen bilden sie einen einzigartigen Fingerprint.

Zitieren