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Prenatal Diagnosis and Prevention of Inherited Abnormalities of Collagen

  • F. M. Pope
  • S. C. M. Daw
  • P. Narcisi
  • A. R. Richards
  • A. C. Nicholls

Summary

There is now strong evidence for the implication of collagen α1(I), α2(I) and αl(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemistry, immunofluorescence, or more sophisticated DNA analysis. Everyone of them with specific defects or with linkage to appropriate gene markers is therefore amenable to prevention using conventional prenatal diagnosis by chorionic villus biopsy (with fibroblast culture), fetoscopic biopsy (with fibroblast culture), ultrasound diagnosis of the severely deformed fetus, or gene linkage studies by chorionic villus biopsy or amniocentesis.

Already many collagen α1(I), α2(I) and α1(III) mutations have been characterized including point mutations, small and large deletions and regulatory mutations. Many others are likely to be rapidly studied by exploiting recent advances in DNA technology, and other strong candidate genes include collagen II (some chondrodystrophies), collagen VI (certain arterial and cardiovascular diseases) and collagen VII (dystrophic epidermolysis bullosa). Other important common diseases are likely to include osteoporosis, osteoarthritis and cerebral aneurysms.

A detailed review is provided of collagen interstitial genes and proteins, together with a description of the various forms of osteogenesis imperfecta and Ehlers Danlos syndrome in which either collagen αl(I), α2(I) or αl(III) mutations have been identified. Appropriate restriction length polymorphisms (RFLPs) useful in identifying carriers of these mutant genes are also described.

Keywords

Osteogenesis Imperfecta Collagen Gene Marfan Syndrome Syndrome Type Ehlers Danlos Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • F. M. Pope
    • 1
  • S. C. M. Daw
    • 1
  • P. Narcisi
    • 1
  • A. R. Richards
    • 1
  • A. C. Nicholls
    • 1
  1. 1.Dermatology Research GroupClinical Research Centre and North wick Park HospitalHarrowUK

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