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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Nature Genetics volume 12, pages 241–247 (1996)Cite this article

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5′, and 3′, ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. GPC3 encodes a putative extracellular proteoglycan, glypican 3, that is inferred to play an important role in growth control in embryonic mesodermal tissues in which it is selectively expressed. Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.

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Authors and Affiliations

  1. Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, Missouri, 63110

    Giuseppe Pilia, Reid Huber & David Schlessinger

  2. Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Canada, K1H 8L1

    Rhiannon M. Hughes-Benzie & Alex MacKenzie

  3. Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin-Elmer Corporation, Foster City, California, 94404

    Primo Baybayan & Ellson Y. Chen

  4. Istituto di Genetica Umana, Catholic University, Rome, Italy, 00168

    Giovanni Neri

  5. Istituto di Clinica e Biologia dell'Eta Evolutiva, University of Cagliari, ed Istituto di Ricerca sulle Talassemie e Anemie Mediterranee, Cagliari, Italy, 09121

    Giuseppe Pilia & Antonio Cao

  6. Dipartimento di Scienze Morfologiche e Medico Legali, University of Modena, Modena, Italy, 41100

    Antonino Forabosco

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Pilia, G., Hughes-Benzie, R., MacKenzie, A. et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 12, 241–247 (1996). https://doi.org/10.1038/ng0396-241

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