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Case Reports
. 1995 Mar;154(3):215-9.
doi: 10.1007/BF01954274.

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

A Superti-Furga  1 , G Eich, H U Bucher, J Wisser, A Giedion, R Gitzelmann, B Steinmann
Affiliations
Case Reports

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

A Superti-Furga et al. Eur J Pediatr. 1995 Mar.

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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References

    1. Nat Genet. 1994 Mar;6(3):318-21 - PubMed
    1. Nat Genet. 1994 Mar;6(3):314-7 - PubMed
    1. Eur J Pediatr. 1991 May;150(7):493-7 - PubMed
    1. Nature. 1994 Sep 15;371(6494):252-4 - PubMed
    1. Proc Natl Acad Sci U S A. 1990 Aug;87(15):5812-6 - PubMed

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