Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation |
Lee, Chaky
(Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University)
Jung, Hee-sup (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University) Baek, Jin-A (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University) Leem, Dae Ho (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University) Ko, Seung-O (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University) |
1 | Rimoin DL (1978) International nomenclature of constitutional diseases of bone. J Pediatr 93:614-616 DOI |
2 | Golan I, Baumert U, Wagener H, Dauwerse J, Preising M, Lorenz B et al (2002) Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis. Orthod Craniofac Res 5:243-249 DOI |
3 | Golan I, Baumert U, Hrala BP, Schaumburger J, Wiech O, Grifka J et al (2003) Symptoms and signs in cleidocranial dysplasia (CCD). Z Orthop Ihre Grenzgeb 141:336-340 DOI |
4 | Jeong SJ, Hong SK (2000) Cleidocranial dysplasia: report of a case. Korean J Oral Maxillofacial Radiol 30:229-234 |
5 | Jensen BL, Kreiborg S (1995) Craniofacial growth in cleidocranial dysplasia-a roentgencephalometric study. J Craniofac Genet Dev Biol 15:35-43 |
6 | McNamara CM, O'Riordan BC, Blake M, Sandy JR (1999) Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 28:89-97 DOI |
7 | Jensen BL, Kreiborg S (1992) Dental treatment strategies in cleidocranial dysplasia. Br Dent J 172:243-247 DOI |
8 | Robert EM, Diane S (2003) Oral and maxillofacial pathology. Quintessence Book, Hong-Kong |
9 | Mundlos S (1999) Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 36:177-182 |
10 | Sc C, Flaitz CM, Johnston DA, Lee B, Hecht JT (2001) A natural history of cleidocranial dysplasia. Am J Med Genet 104:1-6 DOI |
11 | Yamamoto H, Sakae T, Davies JE (1989) Cleidocranial dysplasia: a light microscope, electron microscope, and crystallographic study. Oral Surg Oral Med Oral Pathol 68:195-200 DOI |
12 | Jensen BL, Kreiborg S (1993) Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia. J Craniofac Genet Dev Biol 13:98-108 |
13 | Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J et al (1997) Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 16:307-310 DOI |
14 | Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K et al (1997) Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755-764 DOI |
15 | Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR et al (1997) A candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89:765-771 DOI |
16 | Wang GX, Sun RP, Song FL (2010) A novel RUNX2 mutation(T420I) in Chinese patients with cleidocranial dysplasia. Genet Mol Res 9:41-47 DOI |
17 | Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L et al (1999) Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet 65:1268-1278 DOI |
18 | Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A et al (1996) Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. Blood 88:561-573 |
19 | Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y et al (2002) Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 71:724-738 DOI |