Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia
Piette P. Deutz-Terlouw
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands
Search for more papers by this authorCorresponding Author
Monique Losekoot
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands
MGC Dept. of Human Genetics and Clinical Genetic Center, Leiden University, 2322 AL Leiden, The Netherlands. Fax: 31-71-527-6075Search for more papers by this authorCora M. Aalfs
Department of Human Genetics and Pediatrics, Academical Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorRaoul C.M. Hennekam
Department of Human Genetics and Pediatrics, Academical Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorEgbert Bakker
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands
Search for more papers by this authorPiette P. Deutz-Terlouw
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands
Search for more papers by this authorCorresponding Author
Monique Losekoot
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands
MGC Dept. of Human Genetics and Clinical Genetic Center, Leiden University, 2322 AL Leiden, The Netherlands. Fax: 31-71-527-6075Search for more papers by this authorCora M. Aalfs
Department of Human Genetics and Pediatrics, Academical Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorRaoul C.M. Hennekam
Department of Human Genetics and Pediatrics, Academical Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorEgbert Bakker
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands
Search for more papers by this author
References
- Bellus GA, Hefferon TW, de Luna Ortiz RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA (1995a) Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 56: 368–373.
- Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA (1995b) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genet 10: 357–359.
- Francomano CA, de Luna Ortiz RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton Halloran S, Murray JC, McIntosh I, Hecht JT (1994) Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum Mol Genet 3: 787–792.
- Hall BD, Spranger J (1979) Hypochondroplasia: Clinical and radiological aspects in 39 cases. Radiology 133: 95–100.
- Kneppers ALJ, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJB, Bakker E (1995) Point mutation screening for 16 exons of the Dystrophin gene by multiplex single-strand conformation polymorphism analysis. Hum Mutat 5: 235–242.
- Le Merrer M, Rousseau F, Legeal-Mallet L, Landais J-C, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, Maroteaux P, (1994) A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nature Genet 6: 318–321.
- Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874–879.
- Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P (1995) A common FGFR3 gene mutation in hypochondroplasia. Hum Mol Genet 4: 2097–2101.
- Rousseau F, Bonaventure J, Legeal-Mallet L, Pelet A, Rozet J-M, Maroteaux P, Le Merrer M, Munnich A (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371: 252–254.
- Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide A-L, Maroteaux P, Bonaventure J, Narcy F, Sanak M (1995) Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nature Genet 10: 11–12.
- Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 335–342.
- Stoilov I, Kilpatrick MW, Tsipouras P (1995) A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. Am J Med Genet 55: 127–133.
- Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ (1995a) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet 9: 321–328.
- Tavormina PL, Rimoin DL, Cohn DH, Zhu Y-Z, Shiang R, Wasmuth JJ (1995b) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 4: 2175–2177.
- Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P, (1994) The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nature Genet 6: 314–317.
- Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK (1971) Hypochondroplasia. Am J Dis Child 122: 95–104.
- Worley KC, Wiese BA, Smith RF (1995) BEAUTY: An enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genome Res 5: 173–184.
- Wynne-Davies R, Patton MA (1991) The frequency of mental retardation in hypochondroplasia (letter). J Med Genet 28: 644.