Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

You are here: Specialist Areas » Human Genetics » Gene Panels » Ehlers Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) Gene Panel

Dr. rer. nat. Karin Mayer

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders, which is characterized by hyperelastic skin, tissue fragility, joint hypermobility and various skeletal, cardiovascular, and gastrointestinal symptoms as well as involvement of the lungs and eyes. Based on clinical, biochemical and molecular genetic data as well as inheritance (autosomal dominant, autosomal recessive, or X-linked) EDS can be divided into 13 subtypes. According to the Villefranche classification, these groups are subdivided into 6 main types, where mutations in genes for fibrillar collagens or enzymes of the collagen metabolism are present. In the last few years more and more new EDS types were genetically and biochemically identified and characterized, which has led to a better understanding of the EDS pathogenesis, going beyond the collagen metabolism. Since clinical distinction of the different EDS types is often difficult, genetic diagnostics using next generation sequencing (NGS) can facilitate diagnosis.


Method

All coding exons and their flanking intronic sequences from the genes in the Ehlers Danlos gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).

Literature

Mayer in eLS 2012, John Wiley & Sons Ltd: Chichester (November 2012) http://www.els.net/ [DOI: 10.1002/9780470015902.a0024295] (2012) / dePaepe and Malfait, Clin Genet 82:1 (2012) / Beighton et al, Am J Med Genet 77:31 (1998)