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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome progeroid type


Other Names for this Disease
  • Dermatan sulfate proteoglycan
  • Galactosyltransferase 1 deficiency
  • PDS, defective biosynthesis of
  • Proteodermatan sulfate, defective biosynthesis of
  • XGPT deficiency
More Names
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Cause


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What causes Ehlers-Danlos syndrome progeroid type?

Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue.[1] Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type.
Last updated: 7/13/2011

References
  1. Quentin E, Gladen A, Roden L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: Galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc. Natl. Acad. Sci. 1990; 87:1342-1346.