title: Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
abstract: Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996]. We have used Southern blot analysis and polymerase chain reaction amplification of intra-exonic sequences to identify four new GPC3 mutations and further characterize three previously reported SGBS mutations. De novo GPC3 mutations were identified in 2 families. In general, the mutations were unique deletions ranging from less than 0.1 kb to more than 300 kb in length with no evidence of a mutational hot spot discerned. The lack of correlation between the phenotype of 18 affected males from these 7 families and the location and size of the GPC3 gene mutations suggest that SGBS is caused by a nonfunctional GPC3 protein.
authors.affiliation: Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Canada.
authors.forename: R M
authors.initials: RM
authors.lastname: Hughes-Benzie
authors.forename: G
authors.initials: G
authors.lastname: Pilia
authors.forename: J Y
authors.initials: JY
authors.lastname: Xuan
authors.forename: A G
authors.initials: AG
authors.lastname: Hunter
authors.forename: E
authors.initials: E
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Golabi
authors.forename: J A
authors.initials: JA
authors.lastname: Hurst
authors.forename: J
authors.initials: J
authors.lastname: Kobori
authors.forename: K
authors.initials: K
authors.lastname: Marymee
authors.forename: R A
authors.initials: RA
authors.lastname: Pagon
authors.forename: H H
authors.initials: HH
authors.lastname: Punnett
authors.forename: S
authors.initials: S
authors.lastname: Schelley
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: M M
authors.initials: MM
authors.lastname: Wohlferd
authors.forename: T
authors.initials: T
authors.lastname: Grossman
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: A E
authors.initials: AE
authors.lastname: MacKenzie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001345:Autoradiography; D015139:Blotting, Southern; D002872:Chromosome Deletion; D015342:DNA Probes; D005838:Genotype; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011509:Proteoglycans / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
chemical_list: D015342:DNA Probes; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate; D011509:Proteoglycans