geneskin

Ehlers-Danlos Syndrome, Kyphoscoliotic Type - Diagnostic Tests

Diagnostic Tests

  • Clinical evaluation.
  • Biochemical testing: increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by HPLC, a highly sensitive and specific test.
  • Assay of lysyl hydroxylase enzyme activity in skin fibroblasts. In EDS kyphoscoliosis type, enzyme activity is below 25%.
  • Molecular genetic testing of the PLOD1 gene that encodes the enzyme lysyl hydroxylase 1

Diagnostic Tools

This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:

  1. model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
  2. a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
  3. 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.
  4. 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.

Model Questionnaire

Clinical checklist (downloadable version)

Cell Biology Tools

This information can be made available on request. Please send your request to Prof. Paul Coucke (paul.coucke@ugent.be)

Molecular Genetic Tools

Causative genes

PLOD1 Genecards Logo

This information can be made available on request. Please send your request to Prof. Paul Coucke (paul.coucke@ugent.be)

Mutation Database

Causative genes

PLOD1 HGMD Logo

For screening procedures, please refer to the following paper:

  • Yeowel H. And Walker L. 2000. Mutations in lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.Mol. Genet. Metab. 71(1-2): 212-224. Review.

For further information, please contact Prof. Paul Coucke (paul.coucke@ugent.be)