title: Glypican 1 gene: good candidate for brachydactyly type E.
abstract: In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, Belgium.
authors.forename: Maria
authors.initials: M
authors.lastname: Syrrou
authors.forename: Katelÿne
authors.initials: K
authors.lastname: Keymolen
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Maureen
authors.initials: M
authors.lastname: Holvoet
authors.forename: Reinhilde
authors.initials: R
authors.lastname: Thoelen
authors.forename: K
authors.initials: K
authors.lastname: Verhofstadt
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006226:Hand Deformities / Q000150:complications / Q000235:genetics; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008875:Middle Aged
chemical_list: D019812:Heparan Sulfate Proteoglycans