By David W. Hollister, Peter H. Byers, Karen A. Holbrook (auth.), Harry Harris, Kurt Hirschhorn (eds.)
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Extra resources for Advances in Human Genetics: 12
42 David W. Hollister, Peter H. Byers, and Karen A. Holbrook Fig. 9. EDS VI. This nine-year-old girl has a Marfanoid habitus , scoliosis, fragile extensible skin, and ocular globe fragility. (Photograph courtesy Dr. ) Chapter 1: Genetic Disorders of Collagen Metabolism 43 lysyl hydroxylase in cultured dermal fibroblasts. All patients in whom it has been measured have very low lysyl hydroxylase levels in cultured cells (Table VIII) and parents of affected individuals generally have about half the normal levels of the enzyme, consistent with autosomal recessive inheritance.
The resolution ofthis question may require purification of enzymes from several tissues and comparison of their structure or, alternatively, demonstration of differential gene activity in tissues. As is the case for most enzymatic defects, EDS VI is inherited in an autosomal recessive fashion, but counseling concerning the natural history of the disorder remains uncertain because of a paucity of information. , 1976). Prenatal diagnosis of Iysyl hydroxylase deficiency is probably feasible using amniotic fluid cells in culture to assay for the enzyme, although the questions of isoenzymes has not yet been resolved.
5. Large aggregate collagen fibrils characteristic of the dermis of patients with dominant forms of the Ehlers-Danlos syndrome (Types I-III) shown in longitudinal (x 14,000) and cross (x 38,000) section. individual with EDS I and found that the amount of proteoglycan synthesized by them was in excess of that synthesized by control fibroblasts. Collagen interactions with proteoglycans and with glycoproteins derived from extracellular matrix have been extensively explored (Lindahl and Hook, 1978).