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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
Nat Genet. 1996 Mar; 12(3):241-7.NGen

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.

Authors+Show Affiliations

Pilia G
Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Hughes-Benzie RM
No affiliation info available
MacKenzie A
No affiliation info available
Baybayan P
No affiliation info available
Chen EY
No affiliation info available
Huber R
No affiliation info available
Neri G
No affiliation info available
Cao A
No affiliation info available
Forabosco A
No affiliation info available
Schlessinger D
No affiliation info available

MeSH

Abnormalities, MultipleAmino Acid SequenceAnimalsBase SequenceCell LineChromosome AberrationsChromosome DisordersChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 16Cloning, MolecularDNA PrimersFemaleGene DeletionGenetic LinkageGlypicansGrowth DisordersHeLa CellsHeparan Sulfate ProteoglycansHeparitin SulfateHumansImmunologic TechniquesInsulin-Like Growth Factor IIMaleMiceMolecular Sequence DataPedigreeProtein BindingProteoglycansSequence Homology, Amino AcidSyndromeTranslocation, GeneticTumor Cells, CulturedX Chromosome

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8589713

Citation

Pilia, G, et al. "Mutations in GPC3, a Glypican Gene, Cause the Simpson-Golabi-Behmel Overgrowth Syndrome." Nature Genetics, vol. 12, no. 3, 1996, pp. 241-7.
Pilia G, Hughes-Benzie RM, MacKenzie A, et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet. 1996;12(3):241-7.
Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., & Schlessinger, D. (1996). Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genetics, 12(3), 241-7.
Pilia G, et al. Mutations in GPC3, a Glypican Gene, Cause the Simpson-Golabi-Behmel Overgrowth Syndrome. Nat Genet. 1996;12(3):241-7. PubMed PMID: 8589713.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. AU - Pilia,G, AU - Hughes-Benzie,R M, AU - MacKenzie,A, AU - Baybayan,P, AU - Chen,E Y, AU - Huber,R, AU - Neri,G, AU - Cao,A, AU - Forabosco,A, AU - Schlessinger,D, PY - 1996/3/1/pubmed PY - 1996/3/1/medline PY - 1996/3/1/entrez SP - 241 EP - 7 JF - Nature genetics JO - Nat Genet VL - 12 IS - 3 N2 - 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. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8589713/Mutations_in_GPC3_a_glypican_gene_cause_the_Simpson_Golabi_Behmel_overgrowth_syndrome_ L2 - https://doi.org/10.1038/ng0396-241 DB - PRIME DP - Unbound Medicine ER -