A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (original) (raw)

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.

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Abbreviations

FGFR-3 :

fibroblast growth factor receptor-3

G-to-A :

guanosine-to-adenosine transition

G-to-C :

guanosine-to-cytidine transversion

G-to-T :

guanosine-to-thymidine transversion

G375C :

glycine-to-cysteine substitution at position 375

G380R :

glycine-to-arginine substitution at position 380

PCR :

polymerase chain reaction

SSCP :

single-strand conformation polymorphism

References

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Authors and Affiliations

  1. Division of Metabolism, Department of Pediatrics, University of Zurich, Switzerland
    A. Superti-Furga, B. Steinmann & R. Gitzelmann
  2. Division of Radiology, Department of Pediatrics, University of Zurich, Switzerland
    G. Eich & A. Giedion
  3. Division of Neonatology, Department of Pediatrics, University of Zurich, Switzerland
    H. U. Bucher
  4. Department of Obstetrics, University of Zurich, Switzerland
    J. Wisser
  5. University Children's Hospital, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland
    A. Superti-Furga

Authors

  1. A. Superti-Furga
  2. B. Steinmann
  3. R. Gitzelmann
  4. G. Eich
  5. A. Giedion
  6. H. U. Bucher
  7. J. Wisser
  8. A. Superti-Furga

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Superti-Furga, A., Steinmann, B., Gitzelmann, R. et al. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.Eur J Pediatr 154, 215–219 (1995). https://doi.org/10.1007/BF01954274

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