Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen
- 1 September 1986
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 74 (1), 41-46
- https://doi.org/10.1007/bf00278783
Abstract
Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the EDS type IV phenotype with a COL3A1 RFLP allele. Biochemical studies in cultured skin fibroblasts indicated the presence of different mutations affecting the stability and secretion of the proα1(III) chains of type III procollagen in the two families, thus suggesting that EDS type IV is biochemically heterogeneous. Our data demonstrated the feasibility of molecular diagnosis in this condition using COL3A1 gene related RFLPs.Keywords
This publication has 17 references indexed in Scilit:
- Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.JCI Insight, 1985
- Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.Journal of Medical Genetics, 1985
- Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.Journal of Biological Chemistry, 1985
- Easy calculations of lod scores and genetic risks on small computers.1984
- MOLECULAR HETEROGENEITY IN THE MILD AUTOSOMAL DOMINANT FORMS OF OSTEOGENESIS IMPERFECTA1984
- Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.Proceedings of the National Academy of Sciences, 1982
- Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndromeHuman Genetics, 1979
- Patients with Ehlers-Danlos syndrome type IV lack type III collagen.Proceedings of the National Academy of Sciences, 1975
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970
- Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).BMJ, 1967