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
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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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DOI: https://doi.org/10.1007/BF01954274