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Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome

✍ Scribed by Massimo Pellegrini; Giuseppe Pilia; Serafino Pantano; Franco Lucchini; Manuela Uda; Mariapaola Fumi; Antonio Cao; David Schlessinger; Antonino Forabosco

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
711 KB
Volume
213
Category
Article
ISSN
1058-8388

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✦ Synopsis

Interest in glypican-3 (GPC3), a member of the glypican-related integral membrane heparan sulfate proteoglycans (GRIPS) family, has increased with the finding that it is mutated in the Simpson-Golabi-Behmel overgrowth syndrome (Pilia et al. [1996] Nat. Genet. 12:241-247). The working model suggested that the membrane-bound protein acts locally to limit tissue and organ growth and that it may function by interacting with insulin-like growth factor 2 (IGF2) to limit its local effective level. Here we have tested two predictions of the model. In situ hybridization with the mouse gene cDNA was used to study the expression pattern during embryonic and fetal development. In agreement with predictions, the gene is expressed in precisely the organs that overgrow in its absence; and the patterns of expression of Gpc3 and those reported for Igf 2 are strictly correlated.

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GPC3 mutation analysis in a spectrum of
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
✍ Li, Madeline ;Shuman, Cheryl ;Fei, Yan Ling ;Cutiongco, Eva ;Bender, H.A. ;Steve πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 283 KB πŸ‘ 2 views

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.

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Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
✍ Neri, Giovanni; Gurrieri, Fiorella; Zanni, Ginevra; Lin, Angela πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 32 KB πŸ‘ 2 views

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies/dysplasia syndrome caused by a mutant X-linked gene. The spectrum of its clinical manifestations is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. A typically