Journal article
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
AB Campos-Xavier, D Martinet, J Bateman, D Belluoccio, L Rowley, TY Tan, A Baxová, KH Gustavson, ZU Borochowitz, AM Innes, S Unger, JS Beckmann, L Mittaz, D Ballhausen, A Superti-Furga, R Savarirayan, L Bonafé
American Journal of Human Genetics | Published : 2009
Abstract
Glypicans are a family of glycosylphosphatidylinositol (GPI)-anchored, membrane-bound heparan sulfate (HS) proteoglycans. Their biological roles are only partly understood, although it is assumed that they modulate the activity of HS-binding growth factors. The involvement of glypicans in developmental morphogenesis and growth regulation has been highlighted by Drosophila mutants and by a human overgrowth syndrome with multiple malformations caused by glypican 3 mutations (Simpson-Golabi-Behmel syndrome). We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chr..
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Awarded by Australian Research Council
Funding Acknowledgements
We are grateful to the affected individuals and their families for their cooperation. We thank Carole Chiesa for excellent technical assistance, Trevor Cameron for cartilage RNA isolation, and Peter Farlie for help with immunohistochemistry. This work was supported by the Swiss National Research Foundation, grant no. 320000-116S06, to L.B. and by an Australian Research Council Discovery grant to J.B.