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SUMMARY Fibroblast growth factor receptor 3 (FGFR3) has recently been identified as a putative gene for achondroplasia. Since a guanine to adenine mutation at 1138 of the cDNA for FGFR3 had

been identified in most of the patients in Western population, we examined 13 Japanese patients to see if they also share the same mutation. Specific endonuclease digestion of the amplified

coding sequence for the transmembrane domain of the FGFR3 revealed that the 12 patients have the G to A change at 1138, while the other had the G to C substitution at the same point, both of

which result in G380A substitution. As far as we studied, the homogeneity of the point mutation at 1138 is also authentic to Japanese patient as well as Western patients. SIMILAR CONTENT

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present in achondroplasia but not in hypochondroplasia. Am J Med Genet55:127–133 Article  CAS  PubMed  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS *

Department of Pediatrics, Hokkaido University School of Medicine, N-15, W-7, Sapporo 060, Japan Hidefumi Tonoki, Jun Nakae, Toshihiro Tajima, Nozomi Shinohara & Kenji Fujieda *

Department of Orthopedics, Hokkaido University School of Medicine, N-15, W-7, Sapporo 060, Japan Junichi Monji * Department of Orthopedics, Nishi Sapporo National Hospital, Yamanote, Sapporo

063, Japan Shigenobu Satoh Authors * Hidefumi Tonoki View author publications You can also search for this author inPubMed Google Scholar * Jun Nakae View author publications You can also

search for this author inPubMed Google Scholar * Toshihiro Tajima View author publications You can also search for this author inPubMed Google Scholar * Nozomi Shinohara View author

publications You can also search for this author inPubMed Google Scholar * Junichi Monji View author publications You can also search for this author inPubMed Google Scholar * Shigenobu

Satoh View author publications You can also search for this author inPubMed Google Scholar * Kenji Fujieda View author publications You can also search for this author inPubMed Google

Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Tonoki, H., Nakae, J., Tajima, T. _et al._ Predominance of the mutation at 1138 of the cDNA for

the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia. _Jap J Human Genet_ 40, 347–349 (1995). https://doi.org/10.1007/BF01900604 Download citation * Received: 28

August 1995 * Accepted: 16 October 1995 * Published: 01 December 1995 * Issue Date: December 1995 * DOI: https://doi.org/10.1007/BF01900604 SHARE THIS ARTICLE Anyone you share the following

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SharedIt content-sharing initiative KEY WORDS * achondroplasia * point mutation * fibroblast growth factor receptor 3