Download Cancer Prone Disease Section Simpson-Golabi-Behmel Atlas of Genetics and Cytogenetics

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