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Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia
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2009 (English)In: American Journal of Human Genetics, ISSN 0002-9297, Vol. 84, no 6, 760-70 p.Article in journal (Refereed) Published
Abstract [en]

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 chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6). All mutations cause truncation of the GPC6 protein and abolish both the HS-binding site and the GPI-bearing membrane-associated domain, and thus loss of function is predicted. Expression studies in microdissected mouse growth plate revealed expression of Gpc6 in proliferative chondrocytes. Thus, GPC6 seems to have a previously unsuspected role in endochondral ossification and skeletal growth, and its functional abrogation results in a short-limb phenotype.

Place, publisher, year, edition, pages
2009. Vol. 84, no 6, 760-70 p.
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Medical Genetics
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URN: urn:nbn:se:uu:diva-120390DOI: 10.1016/j.ajhg.2009.05.002ISI: 000267042800006PubMedID: 19481194OAI: oai:DiVA.org:uu-120390DiVA: diva2:303250
Available from: 2010-03-11 Created: 2010-03-11 Last updated: 2010-03-31Bibliographically approved

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