Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

G Pilia, RM Hughes-Benzie, A MacKenzie… - Nature …, 1996 - nature.com
G Pilia, RM Hughes-Benzie, A MacKenzie, P Baybayan, EY Chen, R Huber, G Neri, A Cao…
Nature genetics, 1996nature.com
Abstract Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized
by pre-and postnatal overgrowth with visceral and skeletal anomalies. To identify the
causative gene, breakpoints in two female patients with X; autosome translocations were
identified. The breakpoints occur near the 5′, and 3′, ends of a gene, GPC3, that spans
more than 500 kilobases in Xq26; in three families, different microdeletions encompassing
exons cosegregate with SGBS. GPC3 encodes a putative extracellular proteoglycan …
Abstract
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5′, and 3′, ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. 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. Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.
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