Tenascin–X deficiency is associated with Ehlers–Danlos syndrome
- 1 September 1997
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 17 (1), 104-108
- https://doi.org/10.1038/ng0997-104
Abstract
The tenascins are a family of large extracellular matrix proteins with at least three members: tenascin-X (TNX)1–3, tenascin-C (TNC, or cytotactin)4–6 and tenascin-R (TN-R, or restrict in)7,8. Although the tenascins have been implicated in a number of important cellular processes, no function has been clearly established for any tenascin9. We describe a new contiguous-gene syndrome, involving the CYP21B and TNX genes, that results in 21-hydroxylase deficiency and a connective-tissue disorder consisting of skin and joint hyperextensibility, vascular fragility and poor wound healing. The connective tissue findings are typical of the Ehlers-Danlos syndrome (EDS)10. The abundant expression of TNX in connective tissues2,11–13 is consistent with a role in EDS, and our patient's skin fibroblasts do not synthesize TNX protein in vitro or in vivo. His paternal allele carries a novel deletion arising from recombination between TNX and its partial duplicate gene, XA14, which precludes TNX synthesis. Absence of TNX mRNA and protein in the proband, mapping of the TNX gene and HLA typing of this family suggest recessive inheritance of TNX deficiency and connective-tissue disease. Although the precise role of TNX in the pathogenesis of EDS is uncertain, this patient's findings suggest a unique and essential role for TNX in connective-tissue structure and function.Keywords
This publication has 30 references indexed in Scilit:
- Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic HeterogeneityJournal of Investigative Dermatology, 1994
- Tenascin-C, tenascin-R and tenascin-X: a family of talented proteins in search of functionsCurrent Opinion in Cell Biology, 1993
- Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21BThe Journal of cell biology, 1993
- Molecular characterization and in situ mRNA localization of the neural recognition molecule J1-160/180: a modular structure similar to tenascin.The Journal of cell biology, 1993
- The chicken neural extracellular matrix molecule restrictin: Similarity with EGF-, fibronectin type III-, and fibrinogen-like motifsNeuron, 1992
- Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascinGenomics, 1992
- Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.Proceedings of the National Academy of Sciences of the United States of America, 1989
- A cDNA clone for cytotactin contains sequences similar to epidermal growth factor-like repeats and segments of fibronectin and fibrinogen.Proceedings of the National Academy of Sciences of the United States of America, 1988
- Tenascin: an extracellular matrix protein involved in tissue interactions during fetal development and oncogenesisCell, 1986
- A six-armed oligomer isolated from cell surface fibronectin preparationsNature, 1984