title: Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.
abstract: The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. It combines the clinical features of TRPS I and multiple cartilaginous exostoses (EXT). We have used YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization to study chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, TRPS II or EXT. Our results indicate that the TRPS gene maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in TRPS II. We conclude that TRPS II is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
authors.forename: H J
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: M J
authors.initials: MJ
authors.lastname: Wagner
authors.forename: J
authors.initials: J
authors.lastname: Nardmann
authors.forename: B
authors.initials: B
authors.lastname: La Pillo
authors.forename: J E
authors.initials: JE
authors.lastname: Parrish
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: M
authors.initials: M
authors.lastname: Frydman
authors.forename: G J
authors.initials: GJ
authors.lastname: Hamers
authors.forename: D E
authors.initials: DE
authors.lastname: Wells
mesh_terms: D001483:Base Sequence; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D014178:Translocation, Genetic
chemical_list: D017931:DNA Primers