Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
European Journal of Pediatrics
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
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.
Achondroplasia/genetics, Achondroplasia/radiography, Amino Acid Sequence, Base Sequence, Cell Membrane/pathology, Chromosomes, Human, Pair 4, Cysteine, Glycine, Humans, Infant, Newborn, Male, Molecular Sequence Data, Phenotype, Point Mutation, Polymerase Chain Reaction, Receptors, Fibroblast Growth Factor/genetics, Receptors, Fibroblast Growth Factor/ultrastructure
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