Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Human Molecular Genetics

Volumn 5, Issue 4, 1996, Pages 509-512

  Rousseau, F ^a   El Ghouzzi, V ^a   Delezoide, A L ^a   Legeai Mallet, L ^a   Le Merrer, M ^a   Munnich, A ^a   Bonaventure, J ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR; PROTEIN TYROSINE KINASE;

ARTICLE; BONE BOWING; BONE DYSPLASIA; CLINICAL ARTICLE; DISEASE SEVERITY; FEMUR; HUMAN; HUMAN CELL; HUMAN TISSUE; MACROCEPHALY; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON; THANATOPHORIC DWARFISM;

BASE SEQUENCE; CYSTEINE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; HISTOLOGY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN-TYROSINE KINASES; RADIOLOGY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; THANATOPHORIC DYSPLASIA;

EID: 0029937714     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.4.509     Document Type: Article

References (17)

1. Langer, L O., Yang, S.S., Hall, J.G., Sommer, A.M., Kottamasu, S.R., Golabi, M. and Krassikog, N. (1987) Thanatophoric dysplasia and cloverleaf skull. Am. J. Med. Genet., S3, 167-179.
2. Rousseau, F., Saugier, P., Le Merrer, M., Munnich, A., Delezoide, A.-L., Maroteaux, P. and Bonaventure, J. (1995) Stop codon FGFR-3 mutations in thanatophoric dwarfism type I. Nature Genet., 10, 11-12.
3. Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.-Z., Wilkin, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. and Wasmuth, J.J. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor 3. Nature Genet., 9, 321-328.
4. Shiang, R., Thompson, L.M., Zhu, Y-Z., Church, D.M., Fielder, T.J., Bocian, M., Winokur, S.T. and Wasmuth, J.J. (1994) Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 78, 336-342.
5. Rousseau, F , Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.-M., Maroteaux, P., Le Merrer, M. and Munnich, A. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature, 371, 252-254.
6. Bellus, G., McIntosh, I., Smith, A., Aylsworth, A.S., Kaitila, I., Horton, W.A., Greenhaw, G.A., Hecht, J.T. and Francomano, C.A. (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia Nature Genet., 10, 357-359.
7. Tavormina, P.L., Rimoin, D.L., Cohn D.H., Zhu, Y.-Z., Shiang, R. and Wasmuth, J.J. (1995) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR-3 in thanatophoric dysplasia type I. Hum. Mol. Genet., 4, 2175-2177.
8. Perez-Castro, A.V , Wilson, J. and Altherr, M.R. (1995) Genomic organization of the mouse fibroblast growth factor receptor 3 (Fgfr3) gene. Genomics. 30, 157-162.
9. Ullrich, A. and Schlessinger, J. (1990) Signal transduction by receptors with tyrosine kinase activity. Cell. 61, 203-212.
10. Watowich, S.S., Yoshimura, A., Longmore, C.D., Hilton, D.J., Yoshimura, Y. and Lodish, H.F. (1992) Homodimerization and constitutive activation of the eythropoietin receptor Proc. Natl Acad. Sci USA, 89, 2140-2144.
11. Sorokin, A., Lemmon, M.A., Ullrich, A. and Schlessinger, J. (1994) Stabilisation of an active dimeric form of the epidermal growth factor by introduction of an inter-receptor disulfide bond. J. Biol. Chem , 269, 9752-9759.
12. Superti-Furga, A., Eich, G., Bucher, H U., Wisser, J., Giedon, A., Gitzelmann, R. and Steinmann, B. (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor reccptor-3. Eur. J. Pediatr., 154, 215-219.
13. Ikegawa, S., Fukushima, Y., Isomura, M., Takada, F. and Nakamara, Y (1995) Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Hum. Genet., 96, 309-311.
14. Reardon, W., Winter, R.M., Pulleyn, L.J., Jones, B.M. and Malcolm, S. (1994) Mutations in the fibroblast growth factor 2 gene cause Crouzon syndrome. Nature Genet., 8, 98-103.
15. Jabs, E.W., Li, X., Scott, A.F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L.R., Jackson, C.E. and Jaye, M. (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet., 8, 275-279.
16. Park, W.J., Meyers, G.A., Li, X., Theda, C., Day, D., Orlow, S.J., Jones, M.C. and Jabs, E.W. (1995) Novel FGFR-2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum. Mol. Genet., 4, 1229-1233.
17. Rutland, P., Pulleyn, L.J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S , Winter, R.M., Oldridge, M., Slaney, S.F., Poole, M.D. and Wilkie, A.O.M (1995) Identical mutations in the FGFR-2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet., 9, 173-176.