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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Cancer Prone Disease Section Short Communication Simpson-Golabi-Behmel Hope H Punnett Genetics Laboratory, St. Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134, USA (HHP) Published in Atlas Database: September 2000 Online updated version : http://AtlasGeneticsOncology.org/Kprones/SimpsonGolabiID10038.html DOI: 10.4267/2042/37678 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity References Inheritance X-linked with heterogeneity; most families map Xq26; one large pedigree maps to Xp22. David G. Integral membrane heparan sulfate proteoglycans. FASEB J. 1993 Aug;7(11):1023-30 Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet. 1996 Dec 11;66(2):227-34 Clinics Phenotype and clinics Pre-natal and post-natal overgrowth syndrome, similar to Beckwith-Wiedemann syndrome. Xq26: coarse facies 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 with a neoplastic risk. Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. Mutations in GPC3, a glypican gene, cause the SimpsonGolabi-Behmel overgrowth syndrome. Nat Genet. 1996 Mar;12(3):241-7 Lapunzina P, Badia I, Galoppo C, De Matteo E, Silberman P, Tello A, Grichener J, Hughes-Benzie R. A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. J Med Genet. 1998 Feb;35(2):153-6 Neoplastic risk Wilms tumor, neuroblastoma during early childhood; one case of hepatocellular carcinoma reported. Brzustowicz LM, Farrell S, Khan MB, Weksberg R. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. Am J Hum Genet. 1999 Sep;65(3):779-83 Genes involved and proteins Murthy SS, Shen T, De Rienzo A, Lee WC, Ferriola PC, Jhanwar SC, Mossman BT, Filmus J, Testa JR. Expression of GPC3, an X-linked recessive overgrowth gene, is silenced in malignant mesothelioma. Oncogene. 2000 Jan 20;19(3):410-6 GPC3 Protein Description: GPC3, an X-linked recessive overgrowth gene, may encode a negative regulator of mesothelial cell growth, based on observation that down-regulation of GPC3 is a common occurrence in malignant mesothelioma. Function: Proteoglycans are essential cofactors in cellcell recognition systems, cell-matrix adhesion processes and receptor-growth factor interactions. Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) Paine-Saunders S, Viviano BL, Zupicich J, Skarnes WC, Saunders S. glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. Dev Biol. 2000 Sep 1;225(1):179-87 This article should be referenced as such: Punnett HH. Simpson-Golabi-Behmel. Atlas Cytogenet Oncol Haematol. 2000; 4(4):221. 221 Genet