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.

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: Patient report and review of the literature / Mariani, S; Iughetti, Lorenzo; Bertorelli, R; Coviello, D; Pellegrini, Massimo; Forabosco, Antonino; Bernasconi, Sergio. - In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. - ISSN 0334-018X. - STAMPA. - 16:2(2003), pp. 225-232. [10.1515/JPEM.2003.16.2.225]

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: Patient report and review of the literature

IUGHETTI, Lorenzo;PELLEGRINI, Massimo;FORABOSCO, Antonino;BERNASCONI, Sergio
2003

Abstract

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.
2003
16
2
225
232
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: Patient report and review of the literature / Mariani, S; Iughetti, Lorenzo; Bertorelli, R; Coviello, D; Pellegrini, Massimo; Forabosco, Antonino; Bernasconi, Sergio. - In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. - ISSN 0334-018X. - STAMPA. - 16:2(2003), pp. 225-232. [10.1515/JPEM.2003.16.2.225]
Mariani, S; Iughetti, Lorenzo; Bertorelli, R; Coviello, D; Pellegrini, Massimo; Forabosco, Antonino; Bernasconi, Sergio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/612399
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