Whole Exome Sequencing for Pathogenic Genes in a Hypodontia and Tumor-prone Family.

doi:10.13701/j.cnki.kqyxyj.2018.12.023

Journal of Oral Science Research ›› 2018, Vol. 34 ›› Issue (12): 1360-1363.DOI: 10.13701/j.cnki.kqyxyj.2018.12.023

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Whole Exome Sequencing for Pathogenic Genes in a Hypodontia and Tumor-prone Family.

HOU Fei-fei¹,ZHAO Xiao-xue²,WU Jing²,MA Teng-fei²,WANG Hui-juan²,ZHANG Xiang-yu^2*

1. Department of Pediatric Dentistry, Affiliated Stomatology Hospital, Xiamen Medical College, Xiamen 361006, China;
2. Department of Pediatric Dentistry, Stomatology Hospital, Tianjin Medical University, Tianjin 300070, China.

Received:2018-06-27 Online:2018-12-28 Published:2018-12-27

Abstract

Abstract: Objective: To provide a reference for the early diagnosis of cancer disease risk indicators by studying the intrinsic relationship between the hypodontia and tumor gene.Methods: The clinical data of pedigree with hypodontia and tumor-prone was collected.The pedigree genetic map was drawn to analyze the genetic characteristics.The pedigree members of whole blood genomic DNA for whole exome sequencing was extracted.The obtained sequence was compared with the Human Genome Sequence 37th Reference Gene Group (GRCh37).The sample variation information was screened, counted, and annotated to filter out the disease-associated mutations or gene.Results: There was an intrinsic link between abnormal tooth development and tumorigenesis.Hypodontia was expected to become an extremely important risk indicator in future tumor research.Conclusion: There may be an internal relationship between hypodontia and tumor-prone.Congenital absence of teeth is expected to be an important risk indicator in future cancer research.

Key words: Hypodontia, Tumor-prone, Pedigree, Whole exome sequencing

HOU Fei-fei,ZHAO Xiao-xue,WU Jing,MA Teng-fei,WANG Hui-juan,ZHANG Xiang-yu. Whole Exome Sequencing for Pathogenic Genes in a Hypodontia and Tumor-prone Family.[J]. Journal of Oral Science Research, 2018, 34(12): 1360-1363.

References

[1] 葛立宏.儿童口腔医学[M].第2版,北京大学医学出版社,2013
[2] Küchler EC, Lips A, Tannure PN, et al. Tooth agenesis association with self-reported family history of cancer [J]. J Dent Res, 2013, 92(2)∶149-155
[3] Lammi L, Arte S, Somer M, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer [J]. Am J Hum Genet, 2004, 74(5)∶1043-1050
[4] 张蓉.牙本质涎磷蛋白在牙齿发育、矿化及牙髓损伤修复中作用的研究[D].第四军医大学,2001
[5] Yamakoshi Y, Hu JC, Iwata T, et al. Dentin sialophosphoprotein is processed by MMP-2 and MMP-20 in vitro and in vivo [J]. J Biol Chem, 2006, 281(50)∶38235-38243
[6] Arzoo PS, Klar J, Bergendal B, et al. WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations [J]. Am J Med Genet A, 2014, 164(2)∶353-359
[7] Wong S, Liu H, Bai B, et al. Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia [J]. Arch Oral Biol, 2014, 59(3)∶349-353
[8] Liu H, Ding T, Zhan Y, et al. A novel AXIN2 missense mutation is associated with non-syndromic oligodontia [J]. PLoS One, 2015, 10(9)∶e0138221
[9] Menezes ME, Mitra A, Shevde LA, et al. DNAJB6 governs a novel regulatory loop determining Wnt/β-catenin signalling activity [J]. Biochem J, 2012, 444(3)∶573-580
[10] Hadjihannas MV, Brückner M, Behrens J. Conductin/axin2 and Wnt signalling regulates centrosome cohesion [J]. EMBO Rep, 2010, 11(4)∶317-324
[11] Rauch TA, Wang Z, Wu X, et al. DNA methylation biomarkers for lung cancer [J]. Tumour Biol, 2012, 33(2)∶287-296
[12] 王凤玮,温玲,朱思伟,等.结直肠癌组织中突变型Axin2对Wnt信号转导系统的调控及其机制[J].癌症,2007,26(10)∶1041-1046
[13] Bienz M, Clevers H. Linking colorectal cancer to Wnt signaling [J]. Cell, 2000, 103(2)∶311-320
[14] Kikuchi A. Tumor formation by genetic mutations in the components of the Wnt signaling pathway [J]. Cancer Sci, 2003, 94(3)∶225-229
[15] Peng L, Chen G, Zhu Z, et al. Circular RNA ZNF609 functions as a competitive endogenous RNA to regulate AKT3 expression by sponging miR-150-5p in Hirschsprung's disease [J]. Oncotarget, 2017, 8(1)∶808

Whole Exome Sequencing for Pathogenic Genes in a Hypodontia and Tumor-prone Family.

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