title: A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
abstract: Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
authors.affiliation: Department of Pediatrics, University of Zurich, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: G
authors.initials: G
authors.lastname: Eich
authors.forename: H U
authors.initials: HU
authors.lastname: Bucher
authors.forename: J
authors.initials: J
authors.lastname: Wisser
authors.forename: A
authors.initials: A
authors.lastname: Giedion
authors.forename: R
authors.initials: R
authors.lastname: Gitzelmann
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
mesh_terms: D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002462:Cell Membrane / Q000473:pathology; D002894:Chromosomes, Human, Pair 4; D003545:Cysteine; D005998:Glycine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011859:Radiography; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000648:ultrastructure
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D003545:Cysteine; D005998:Glycine