Human Genetics

, Volume 78, Issue 3, pp 276–281

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

  • A. C. Nicholls
  • A. De Paepe
  • P. Narcisi
  • R. Dalgleish
  • F. De Keyser
  • M. Matton
  • F. M. Pope
Original Investigations

DOI: 10.1007/BF00291676

Cite this article as:
Nicholls, A.C., De Paepe, A., Narcisi, P. et al. Hum Genet (1988) 78: 276. doi:10.1007/BF00291676

Summary

We have examined a large family in which eleven members have a form of autosomal dominant Ehlers-Danlos syndrome type IV. Analysis of fibroblast cultures from affected individuals showed a partial deficiency of type III collagen production. The protein produced was, however, normal in all aspects examined. Using a restriction site polymorphism associated with the structural gene for human type III collagen (COL3A1), we have found tight linkage between the low frequency polymorphic allele and the clinical expression of the disease (lod=3.86 at ϑ=0), identifying the type III collagen gene as the disease locus.

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • A. C. Nicholls
    • 1
  • A. De Paepe
    • 2
  • P. Narcisi
    • 1
  • R. Dalgleish
    • 3
  • F. De Keyser
    • 2
  • M. Matton
    • 2
  • F. M. Pope
    • 2
  1. 1.Dermatology Research GroupClinical Research CentreHarrowUK
  2. 2.Centre for Medical GeneticsUniversity of GenetGentBelgium
  3. 3.Department of GeneticsUniversity of LeicesterLeicesterUK

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