Ehlers-Danlos syndrome type VII: phenotype and genotype.

Abstract

A patient suffering from a severe form of Ehlers-Danlos syndrome is presented (EDS type VII). The presence of bilateral congenital hip dislocation, generalized joint hypermobility and a soft hyperelastic skin with abnormal scarring suggested a specific collagen type I defect. SDS-PAGE analysis of collagens secreted into the medium of fibroblast cultures showed a retarded migration of more than half of the alpha 2(I) chains. CNBr peptide mapping of the HPLC-purified altered chain localized the mutant locus to the N-terminal region of the protein. cDNA analysis of the corresponding gene COL1A2 revealed, in addition to the expected collagen sequence, a transcript missing the entire exon 6. This exon encodes a major crosslinking site within collagen fibres as well as the N-propeptidase cleavage site. The skipping of exon 6 is caused by a splice site mutation substituting an A for a G at the first nucleotide of intron 6.

• Authors: H W Lehmann, S Mundlos, A Winterpacht, R E Brenner, B Zabel, P K Müller
• Journal: Archives of dermatological research (Arch Dermatol Res) Vol. 286 Issue 8 Pg. 425-8 ( 1994) ISSN: 0340-3696 [Print] Germany
• PMID: 7864655 (Publication Type: Journal Article)

Chemical References

• Collagen

Topics

• Base Sequence
• Child, Preschool
• Collagen (analysis, genetics)
• Ehlers-Danlos Syndrome (genetics)
• Exons
• Genotype
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Phenotype