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A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI

Nature Genetics volume 2, pages 228–231 (1992)Cite this article

Abstract

Ehlers–Danlos syndrome (EDS) is characterized by joint hypermobility, alterations in the skin and additional signs of connective tissue involvement. EDS type VI was the first connective tissue disorder for which a specific defect in collagen metabolism was identified, namely a deficiency of lysyl hydroxylase activity. We now report a homozygous single basepair substitution converting the CGA codon (Arg319) to a TGA termination codon in two siblings with EDS type VI. The healthy parents, who are first cousins, and two of the three healthy siblings of the patients are heterozygous. The mutation leads to an almost complete absence of lysyl hydroxylase activity in extracts derived from fibroblasts of the patients.

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Author notes

  1. Peter Royce

    Present address: Terumo Institute of Biomedical Science, Nakai-Machi, Kanagawa, 259-01, Japan

Authors and Affiliations

  1. Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, SF-90220, Oulu, Finland

    James Hyland, Leena Ala-Kokko, Kari I. Kivirikko & Raili Myllylä

  2. Division of Metabolism, Department of Pediatrics, University of Zurich, CH-8032, Zurich, Switzerland

    Peter Royce & Beat Steinmann

Authors
  1. James Hyland
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  2. Leena Ala-Kokko
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  3. Peter Royce
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  4. Beat Steinmann
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  5. Kari I. Kivirikko
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  6. Raili Myllylä
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Hyland, J., Ala-Kokko, L., Royce, P. et al. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI. Nat Genet 2, 228–231 (1992). https://doi.org/10.1038/ng1192-228

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