GPC3 and the Simpson-Golabi-Behmel Syndrome
- DOI:
- 10.1093/med/9780199934522.003.0197
Simpson Golabi Behmel Syndrome (SGBS) is an X-linked overgrowth syndrome with coarse craniofacial features that include hypertelorism, epicanthal folds, macrostomia, macroglossia, and antiverted nares. Associated with this disorder are a number of developmental abnormalities involving the extremities, chest wall, and abdominal wall as well as a number of internal organs including renal dysplasia, and cardiac malformations. Children with SGBS are at increased risk of developing Wilms’ tumor, neuroblastoma, and may have greater frequency of hepatic cancer and testicular gonadoblastoma. The causative gene for SGBS is the Glypican-3 (GPC3) gene located at Xq26 that encodes a glycosylphosphatidylinositol-linked cell surface heparan sulfate proteoglycan that modulates the function of a number of growth factors and morphogens in vivo.
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