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Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG)

Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in... To the Editor: Recent findings of qualitative GAG anomalies in one case with SD/BO-type 1 reported by Sewell et al. (1991), serve to emphasize the importance of systematic GAG studies in this condition. These data support the findings in four siblings with SD we have studied (Toledo et al. 1978). As originally shown by Dietrich’s group (Mouriio et al. 1973), our cases presented low urinary levels of disaccharide-6-sulphate, derived from chondroitin-6-sulphate (C6S) associated to relatively high values of nonsulphated disaccharides, derived from nonsulphated chondroitin (COS). A. sulphate donor PAPS/C6S-~ulphotransferase (C6SST) system disturbance may explain these data (Mouriio et al. 1981, Sewell et al. 1991). An animal model whose phenotype resembles SDI BO also shows undersulphaf.ion of chondroitin sulphate (Orkin et al. 1976), due to a defect in the PAPS/C6SST system (Schwartz et al. 1978). The absence of proteoglycan core protein was described in another similar animal model (Kimata et al. 1981). Sewell et al. (1991) also reported no GAG disturbances in other adult BO cases they examined, and suggested that these findings were hardly surprising since GAG excretion significantly decreases with age. In other reports of BO cases, either urinary GAG were not studied (Horton et al. 1983) http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG)

Clinical Genetics , Volume 42 (4) – Oct 1, 1992

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References (14)

Publisher
Wiley
Copyright
1992 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1992.tb03242.x
Publisher site
See Article on Publisher Site

Abstract

To the Editor: Recent findings of qualitative GAG anomalies in one case with SD/BO-type 1 reported by Sewell et al. (1991), serve to emphasize the importance of systematic GAG studies in this condition. These data support the findings in four siblings with SD we have studied (Toledo et al. 1978). As originally shown by Dietrich’s group (Mouriio et al. 1973), our cases presented low urinary levels of disaccharide-6-sulphate, derived from chondroitin-6-sulphate (C6S) associated to relatively high values of nonsulphated disaccharides, derived from nonsulphated chondroitin (COS). A. sulphate donor PAPS/C6S-~ulphotransferase (C6SST) system disturbance may explain these data (Mouriio et al. 1981, Sewell et al. 1991). An animal model whose phenotype resembles SDI BO also shows undersulphaf.ion of chondroitin sulphate (Orkin et al. 1976), due to a defect in the PAPS/C6SST system (Schwartz et al. 1978). The absence of proteoglycan core protein was described in another similar animal model (Kimata et al. 1981). Sewell et al. (1991) also reported no GAG disturbances in other adult BO cases they examined, and suggested that these findings were hardly surprising since GAG excretion significantly decreases with age. In other reports of BO cases, either urinary GAG were not studied (Horton et al. 1983)

Journal

Clinical GeneticsWiley

Published: Oct 1, 1992

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