Achondroplasia in Sweden caused by the G1138A mutation in FGFR3

Acta Paediatrica, International Journal of Paediatrics

Volumn 85, Issue 12, 1996, Pages 1506-1507

  Alderborn, A ^a   Anvret, M ^b   Gustavson, K H ^a   Hagenas L ^b   Wadelius, C ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

achondroplasia; fibroblast growth factor receptor 3 gene; single point mutation

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACHONDROPLASIA; ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; HUMAN; MUTATION; PRIORITY JOURNAL; SHORT STATURE; SWEDEN;

EID: 0029847596     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1996.tb13963.x     Document Type: Article

References (11)

1. Le Merrer M, Rousseau F, Legeai-Mallet L, Landais J-C, Pelet A, Bonaventure J, et al. A gene for achondroplasia hypochondroplasia maps to chromsome 4p. Nature Genet 1994; 6: 318-21
2. Velinov M, Slaugenhaupt SA, Stoilov I, Scott Jr CI, Gusella JF, Tsipouras P. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nature Genet 1994; 6: 314-7
3. Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J-M, Maroteaux P et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994; 371: 252-4
4. Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78: 335-42
5. Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995; 56: 368-373
6. Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Hum Genet 1995; 96: 309-11
7. Superti-Furga A, Eich G, Bucher HU, Wisser J, Gideon A, 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 1995; 154: 215-9
8. Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genet 1995; 10: 357-9
9. Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P. A common FGFR3 gene mutation in hypochondroplasia. Hum Molec Genet 1995; 4: 2097-101
10. Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, Wilkin DJ, Lachman RS, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet 1995; 9: 321-8
11. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutations in Crouzon syndrome with acanthosis nigricans. Nature Genet 1995; 11: 462-4