PT - JOURNAL ARTICLE AU - L Nuytinck AU - P Narcisi AU - A Nicholls AU - J P Renard AU - F M Pope AU - A De Paepe TI - Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. AID - 10.1136/jmg.29.6.375 DP - 1992 Jun 01 TA - Journal of Medical Genetics PG - 375--380 VI - 29 IP - 6 4099 - http://jmg.bmj.com/content/29/6/375.short 4100 - http://jmg.bmj.com/content/29/6/375.full SO - J Med Genet1992 Jun 01; 29 AB - The clinical and biochemical observations in a patient with a mild form of Ehlers-Danlos syndrome (EDS) type IV are described. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. SDS-polyacrylamide gel electrophoresis of collagens produced by cells obtained from other, non-cutaneous tissues showed two forms of collagen alpha 1(III) chains, a normal and a slow migrating, mutant form. Further analysis confirmed that the type III collagen molecules containing mutant alpha chains which were overmodified had a lower thermal stability and were poorly secreted into the extracellular medium. The protein defect was mapped by in situ cyanogen bromide digestion and was located in alpha 1(III) CB9, the C-terminal peptide of the collagen triple helix. This study shows that non-cutaneous connective tissues can be a useful source for the study of type III collagen defects in patients with EDS type IV.