The gene for cherubism maps to chromosome 4p16.3

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 151-157

  Mangion, Jonathan ^a   Rahman, Nazneen ^a   Edkins, Sarah ^a   Barfoot, Rita ^a   Nguyen, Trang ^a   Sigurdsson, Asgeir ^a   Townend, John V ^b   Fitzpatrick, David R ^c   Flanagan, Adrienne M ^d   Stratton, Michael R ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b Department of Maxillofacial Surgery   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 4P; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; FIBROUS DYSPLASIA; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOME; HUMAN; HUMAN CELL; MALE; MEIOSIS; PRIORITY JOURNAL; TELOMERE;

EID: 0033362150     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302454     Document Type: Article

References (38)

1. Arnott DG (1978) Cherubism - an initial unilateral presentation. Br J Oral Surg 16:38-46
2. Ayoub AF, El-Mofty SS (1993) Cherubism: report of an aggressive case and review of the literature. J Oral Maxillofac Surg 51:702-705
3. Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, et al (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 10: 357-359
4. Betts NJ, Stewart JC, Fonseca RJ, Scott RF (1993) Multiple central giant cell lesions with a Noonan-like phenotype. Oral Surg Oral Med Oral Pathol 76:601-607
5. Caballero Herrera R, Vinals Iglesias H (1998) Cherubism: a study of three generations. Medicina Oral 3:163-171
6. Cohen MM, Gorlin RJ (1991) Noonan-like multiple giant-cell lesion syndrome. Am J Med Genet 40:159-166
7. Cohen MM, Ruvalcaba RHA, Graham CB, Harrison MT, Morgan AF (1974) A new syndrome simulating the Noonan syndrome, the Leopard syndrome and hyperparathyroidism. Syndrome Ident 2:14-17
8. Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 12:390-397
9. Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911-921
10. Dunlap C, Neville B, Vickers RA, O'Neil D, Barker B (1989) The Noonan syndrome/cherubism association. Oral Surg Oral Med Oral Pathol 67:698-705
11. Flanagan AM, Tinkler SMB, Horton MA, Williams DM, Chambers TJ (1988) The multinucleate giant cells in giant cell granulomas of the jaw are osteoclasts. Cancer 62: 1139-1145
12. Hawes MJ (1989) Cherubism and its orbital manifestations. Ophthal Plast Reconstr Surg 5:133-140
13. Hitomi G, Nishide N, Mitsui K (1996) Cherubism: diagnostic imaging and review of the literature in Japan. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81:623-628
14. Jones WA (1933) Familial multilocular cystic disease of the jaws. Am J Cancer 17:946-950
15. -(1938) Further observations regarding familial multilocular cystic disease of the jaws. Br J Radiol 11:227-241
16. Kaugars GE, Niamtu J III, Svirsky JA (1992) Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. Oral Surg Oral Med Oral Pathol 73:369-374
17. Kerley TR, Schow CE Jr (1981) Central giant cell granuloma or cherubism: report of a case. Oral Surg Oral Med Oral Pathol 51:128-130
18. Marck PA, Kudryk WH (1992) Cherubism. J Otolaryngol 21: 84-87
19. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462-464
20. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, et al (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564
21. Penfold CN, McCullagh P, Eveson JW, Ramsay A (1993) Giant cell lesions complicating fibro-osseous conditions of the jaws. Int J Oral Maxillofac Surg 22:158-162
22. Peters WJ (1979) Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol 47:307-311
23. Pina-Neto JM, Moreno AF, Silva LR, Velludo MA, Petean EB, Ribeiro MV, Athayde-Junior L (1986) Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet 25:433-441
24. Quan F, Grompe M, Jakobs P, Popovich BW (1995) Spontaneous deletion in the FMR1 gene in a patient with fragile-X syndrome and cherubism. Hum Mol Genet 4:1681-1684
25. Ramon Y, Berman W, Bubis JJ (1967) Gingival fibromatosis associated with cherubism. Oral Surg Oral Med Oral Pathol 24:435-448
26. Reade PC, McKellar GM, Radden BG (1984) Unilateral mandibular cherubism: brief review and case report. Br J Oral Maxillofac Surg 22:189-194
27. Riefkohl R, Georgiade GS, Georgiade NG (1985) Cherubism. Ann Plast Surg 14:85-90
28. Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, et al (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371:252-254
29. Satokata I, Maas R (1994) Msx1 deficient mice exhibited cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-355.
30. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, et al (1994) Mutations in the transmembrane domain of FGFR3 cause the most common generic form of dwarfism, achondroplasia. Cell 78:335-342
31. Southgate J, Sarma U, Townend JV, Barron J, Flanagan AM (1998) Study of the cell biology and biochemistry of cherubism. J Clin Pathol 52:831-837
32. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, et al (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321-328
33. Valiathan A, Prashanth VK (1997) Cherubism: presentation of a case. Angle Orthod 67:237-238
34. Vaillant JM, Romain P, Divaris M Cherubism. (1989) Findings in three cases in the same family. J Craniomaxillofac Surg 17:345-349
35. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996) A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 13:417-421.
36. Whitaker SB, Singh BB (1995) Intraoral giant cell lesions: the peripheral and central forms of these entities. Pract Periodontics Aesthetic Dent 7:41-47
37. Zachariades N, Papanicolaou S, Xypolyta A, Constantinidis I (1985) Cherubism. Int J Oral Surg 14:138-145
38. Zohar Y, Grausbord R, Shabtai F, Talmi Y (1989) Fibrous dysplasia and cherubism as an hereditary familial disease: follow-up of four generations. J Craniomaxillofac Surg 17: 340-344