Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome with associated visceral and skeletal anomalies. Deletions or point mutations involving the glypican-3 (GPC3) gene at Xq26 are associated with a relatively milder form of this disorder (SGBS1). GPC3 encodes a putative extracellular proteoglycan, glypican-3, that is inferred to play an important role in growth control in embryonic mesodermal tissues in which it is selectively expressed. It appears to form a complex with insulin-like growth factor-II (IGF-II), and might thereby modulate IGF-II action. We reviewed the clinical findings of all published patients with SGBS1 with GPC3 mutations to confirm the clinical specificity for the SGBS1 phenotype. Moreover, we report on a new patient with a GPC3 deletion and IGF-II evaluation.
Mariani
Sabrina
S
Neonatal Intensive Care Unit, A.S.M.N. Reggio Emilia, Modena, Italy.
Iughetti
Lorenzo
L
Bertorelli
Roberto
R
Coviello
Domenico
D
Pellegrini
Massimo
M
Forabosco
Antonino
A
Bernasconi
Sergio
S
D004247:DNA / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007335:Insulin-Like Growth Factor II / Q000235:genetics; D008297:Male; D009558:Nipples / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*
D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans; D007335:Insulin-Like Growth Factor II; D004247:DNA