Ehlers-Danlos Syndrome, Dermatosparaxis Type - Diagnostic Tests
- Clinical evaluation
- ultrastructural studies of the dermal collagen fibrils, showing the pathognomonic hieroglyphic pattern.
- biochemical protein-based testing of radioactively labeled procollagen type I from skin fibroblast cultures shows impaired processing of the N-propeptide of type I collagen, with accumulation of pNα1(I) and pNα2(I).
- molecular sequence analysis of the ADAMTS2 gene.
This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:
- model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
- a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
- a list of molecular genetics tools, including mutational screening procedures, oligonucleotide primer sequences, PCR amplification conditions, and other details for selected diseases. In this section, you also find the link for the gene-specific page of the Weizmann Institute of Science GeneCards website (http://www.genecards.org) which is an integrated database including information on disease relationships, SNPs, gene expression, gene function and more.
- a mutation database with a GENESKIN updated list of the mutations identified in the genes responsible for selected diseases. A link with the gene-specific page at the Human Gene Mutation Database maintained at the University of Wales in Cardiff (www.hgmd.org) and other databases, such as the collagen database in Leicester (www.le.ac.uk/genetics/collagen), is also available.
Here you will find the downloadable version of the Ehlers-Danlos syndrome patient form. This document is currently used to collect patient details before sending the biological sample to the diagnostic laboratory, in order to ease cellular and/or molecular investigations.
Clinical checklist (downloadable version)
Cell Biology Tools
SDS-PAGE-analysis of radioactively labeled procollagen type I from skin fibroblast cultures (information available on request: firstname.lastname@example.org)
Molecular Genetic Tools
This information can be made available on request. Please send your request to prof Paul Coucke (email@example.com)
For mutation lists, please refer to the following papers:
- Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 1999. Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV. Am J Hum Genet. 65(2):308-17.
- Novel types of mutation responsible for the drematosparaxis type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. 2004. Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV. J Invest Dermatol. 123(4): 656-63.
For further information, please contact Prof. Paul Coucke (firstname.lastname@example.org)