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Simpson-Golabi-Behmel syndrome

Written2000-09Hope H Punnett
Genetics Laboratory, St. Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134, USA
Updated2002-05Daniel Sinnett
Division of Hematology-oncology, Research Centre, Sainte-Justine Hospital, 3175 Côte Sainte-Catherine, Montreal, H3T 1C5, Québec, Canada

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Identity

Atlas_Id 10038
Genes implicated inGPC3  OFD1  
Inheritance X-linked with heterogeneity ; most families map Xq26 ; one large pedigree maps to Xp22

Clinics

Phenotype and clinics
  • Characterized by a wide variety of clinical manifestations including pre-natal and post-natal overgrowth syndrome
  • SGBS is phenotypically similar to Beckwith-Wiedemann syndrome (BWS) suggesting that at least part of the SGBS phenotype could be due to increased IGF-II signalling.
  • Xq26: coarse facieses with mandibular overgrowth, cleft palate, heart defects, hernias, supernumerary nipples, renal and skeletal abnormalities.
  • Xp22: lethal form, multiple anomalies, hydrops fetalis, death within first 8 weeks of life.
  • Neoplastic risk
  • increased risk of embryonal tumors, including Wilms tumor, neuroblastoma ; one case of hepatocellular carcinoma reported
  • Genes involved and Proteins

    Gene NameGPC3 (glypican 3)
    Location Xq26.2
    Protein
    Description GPC3 is highly expressed in embryonal tissues such as the developing intestine and the mesoderm-derived tissues, and its expression is downregulated in most adult tissue, implying a potential role in development. GPC3 is a heparan sulfate proteoglycan (HSPG) that is attached to the cell surface via a glycosyl-phosphatidylinositol (GPI) anchor.
    Function HSPGs of the cell surface are highly interactive macromolecules playing various roles in cell migration, proliferation, differentiation and adhesion, and participating in many developmental and pathological processes.
    Mutations
    Germinal Most cases are caused by deletions of different exons in the GPC3 genes . The exact role of GPC3 in the etiology of SGBS is still unknown. The renal dysplasia observed in both SGBS patients and GPC3-deficient mice could be explained by the participation of GPC3 in the control of renal branching morphogenesis by modulating the actions of several different growth factors, including BMP2, BMP7 and fibroblast growth factor 7.

    Bibliography

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    Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.
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    Expression of GPC3, an X-linked recessive overgrowth gene, is silenced in malignant mesothelioma.
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    PMID 10716625
     

    Citation

    This paper should be referenced as such :
    Sinnett, D
    Simpson-Golabi-Behmel syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):309-310.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/SimpsonGolabiID10038.html
    History of this paper:
    Punnett, HH. Simpson-Golabi-Behmel syndrome. Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):221-221.
    http://documents.irevues.inist.fr/bitstream/handle/2042/37678/09-2000-SimpsonGolabiID10038.pdf


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