A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
Publication/Presentation Date
11-1-1992
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.
Volume
2
Issue
3
First Page
228
Last Page
231
ISSN
1061-4036
Published In/Presented At
Hyland, J., Ala-Kokko, L., Royce, P., Steinmann, B., Kivirikko, K. I., & Myllylä, R. (1992). A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nature genetics, 2(3), 228–231. https://doi.org/10.1038/ng1192-228
Disciplines
Medicine and Health Sciences
PubMedID
1345174
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article