Department of Dermatology, University Hospital Basel, Hebelstr. 20, 4031 Switzerland, Department of Biomedicine, University Hospital Basel, Switzerland, Center for Translational Genetics, Rappaport Institute, Israel Institute of Technology, Haifa, Israel, Department of Dermatology, Rambam Health Care Campus, Haifa, Israel, Department of Biomedicine, University of Basel, Switzerland, Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
- Mots-clés : Buschke-Ollendorff syndrome, ELN, gene expression, germline mutation, LEMD3, MAN1
- DOI : 10.1684/ejd.2010.1051
- Page(s) : 693-7
- Année de parution : 2010
Buschke-Ollendorff syndrome refers to the concomitant occurrence of connective tissue nevi, composed of elastic fibers in most cases, with osteopoikilosis. This autosomal dominant inherited disorder is caused by mutations in the gene LEMD3 on chromosome 12q14, which induces a rather heterogeneous clinical phenotype. Here, we report on the most proximal germline mutation found to date in the LEMD3 gene, p.Val94fs, in a three-generation Swiss family. Quantitative RNA analyses in affected and non-affected skin tissue from the proband demonstrate a comparable nonsense-mediated decay of mutant LEMD3 mRNA in both tissues; however, different levels of tropoelastin expression suggest that additional factors are involved in the development of the cutaneous lesions.