Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia

International Journal of Clinical and Experimental Pathology

Volumn 8, Issue 1, 2015, Pages 1057-1062

  Guo, Ya Wun ^a,b   Chiu, Chih Yang ^b   Liu, Chien Lin ^b,c   Jap, Tjin Shing ^b,c   Lin, Liang Yu ^b,c  

^a TAIPEI CITY HOSPITAL   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Cleidocranial dysplasia; Mutation; RUNX2 gene

Indexed keywords

RUNX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR RUNX2;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE REPORT; CLEIDOCRANIAL DYSPLASIA; FEMALE; GENETICS; HUMAN; MIDDLE AGED; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ASIAN CONTINENTAL ANCESTRY GROUP; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; FEMALE; HUMANS; MIDDLE AGED; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84923134190     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Horton WA, Hecht JT. Disorders Involving Transcription Factors. Nelson Textbook of Pediatrics. In: Robert M Kliegman, Bonita MD Stanton, Joseph St Geme, Nina Schor and Richard E Behrman, editors. 2011. pp. 2431-2432.
2. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999; 36: 177-182.
3. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 1997; 16: 307-310.
4. Kagoshima H, Shigesada K, Satake M, Ito Y, Miyoshi H, Ohki M, Pepling M, Gergen P. The Runt domain identifies a new family of heteromeric transcriptional regulators. Trends Genet 1993; 9: 338-341.
5. Ducy P. Cbfa1: a molecular switch in osteoblast biology. Dev Dyn 2000; 219: 461-471.
6. Wang GX, Sun RP, Song FL. A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. Genet Mol Res 2010; 9: 41-47.
7. Li YL, Xiao ZS. Advances in Runx2 regulation and its isoforms. Med Hypotheses 2007; 68: 169-175.
8. Karsenty G. Transcriptional Control of Skeleto-genesis. Annu Rev Genomics Hum Genet 2008; 9: 183-196.
9. Zelzer E, Olsen BR. The genetic basis for skeletal diseases. Nature 2003; 423: 343-348.
10. Komori T, Kishimoto T. Cbfa 1 in bone development. Curr Opin Genet Dev 1998; 8: 494-499.
11. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia. Cell 1997; 89: 773-779.
12. Sakai N, Hasegawa H, Yamazaki Y, Ui K, To-kunaga K, Hirose R, Uchinuma E, Susami T and Takato T. A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene. J Craniofac Surg 2002; 13: 31-34.
13. Zhang YW, Yasui N, Kakazu N, Abe T, Takada K, Imai S, Sato M, Nomura S, Ochi T, Okuzumi S, Nogami H, Nagai T, Ohashi H, Ito Y. PEBP2-alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. Gene 2000; 244: 21-28.
14. Tsai FJ, Wu JY, Lin WD, Tsai CH. A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia. Acta Paediatrica 2000; 89: 1262-1265.
15. Yokozeki M, Ohyama K, Tsuji M, Goseki-Sone M, Oida S, Orimo H, Moriyama K, Kuroda T. A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation. J Craniofac Genet Dev Biol 2000; 20: 121-126.
16. Han MS, Kim HJ, Wee HJ, Lim KE, Park NR, Bae SC, van Wijnen AJ, Stein JL, Lian JB, Stein GS, Choi JY. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. J Cell Biochem 2010; 110: 97-103.
17. Wang GX, Ma LX, Xu WF, Song FL, Sun RP. Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families. Zhonghua Er Ke Za Zhi 2010; 48: 834-838.
18. Zhang C, Zheng S, Wang Y, Zhao Y, Zhu J, Ge L. Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. Muta-genesis 2010; 25: 589-594.
19. Gao C, Wu L, Geng XJ, Song LJ, Luo Q. Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010; 27: 140-143.
20. Li Y, Pan W, Xu W, He N, Chen X, Liu H, Darryl Quarles L, Zhou H, Xiao Z. RUNX2 mutations in Chinese patients with cleidocranial dysplasia. Mutagenesis 2009; 24: 425-431.
21. Xuan D, Li S, Zhang X, Hu F, Lin L, Wang C, Zhang J. Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia. Ann Clin Lab Sci 2008; 38: 15-24.
22. Tang S, Xu Q, Xu X, Du J, Yang X, Jiang Y, Wang X, Speck N, Huang T. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails. BMC Med Genet 2007; 8: 82.
23. Wang Y, Wu H, Zhang XX, Zhao HS, Feng HL. Gene mutation detection in a cleidocranial dysplasia family. Zhonghua Kou Qiang Yi Xue Za Zhi 2005; 40: 459-462.
24. Qiu ZQ, Tang AL, Yu W, Ao Y, Wilson HY, Wei M, Zhang X. A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2. Zhonghua Er Ke Za Zhi 2004; 42: 759-761.
25. Lin WD, Lin SP, Wang CH, Tsai Y, Chen CP, Tsai FJ. RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia. Genet Mol Biol 2011; 34: 201-204.
26. Fang CY, Xue JJ, Tan L, Jiang CH, Gao QP, Liang DS, Wu LQ. A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia. Genet Mol Res 2011; 10: 3539-3544.
27. Qi Z, Yang W, Meng Y, Liu Y. Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2014; 31: 415-419.
28. Wu LZ, Su WQ, Liu YF, Ge X, Zhang Y, Wang XJ. Role of the RUNX2 p. R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure. Genet Mol Res 2014; 13: 1187-1194.
29. Jiang T, Jiang X, Zhang Y. Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia. Hua Xi Kou Qiang Yi Xue Za Zhi 2013; 31: 522-525.
30. Ding B, Li C, Xuan K, Liu N, Tang L, Liu Y, Guo W, Liu W, Jin Y. The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells. Eur J Med Genet 2013; 56: 180-187.
31. Chen T, Hou J, Hu LL, Gao J, Wu BL. A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia. Int J Clin Exp Pathol 2014; 7: 2490-2495.
32. Anthonappa RP, Yan-Hui F, King NM, Rabie AB, You-Qiang S. Novel complex disease allele mutations in cleidocranial dysplasia patients. J Oral Pathol Med 2014; 43: 798-800.
33. Huang Y, Song Y, Zhang C, Chen G, Wang S, Bian Z. Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia. Eur J Oral Sci 2013; 121: 142-147.
34. Thirunavukkarasu K, Mahajan M, McLarren KW, Stifani S, Karsenty G. Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta. Mol Cell Biol 1998; 18: 4197-4208.
35. Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL. A Runx2 threshold for the cleidocranial dysplasia phenotype. Hum Mol Genet 2009; 18: 556-568.