Journal of Shandong University (Health Sciences) ›› 2019, Vol. 57 ›› Issue (4): 97-100.doi: 10.6040/j.issn.1671-7554.0.2018.1302

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An analysis of the mutation of MSX1 gene in a non-syndromic tooth agenesis family

DING Tingting1, ZOU Dong2, LIU Haochen3   

  1. 1. Department of Stomatology, Beijing Childrens Hospital, Capital Medical University, Beijing 100045, China;
    2. Centre of Stomatology, China-Japan Friendship Hospital, Beijing 100029, China;
    3. Department of Prosthodontics, Hospital of Stomatology, Peking University, Beijing 100081, China
  • Published:2022-09-27

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Abstract: Objective To search for the disease-causing gene in a family with non-syndromic tooth agenesis. Methods A family with non-syndromic tooth agenesis was recruited from Beijing Childrens Hospital. The clinical data were collected and genomic DNAs were extracted from peripheral blood lymphocytes. The common pathogenic genes of tooth agenesis were detected, and the bioinformatic and phenotypic information of the suspected mutation was analyzed. Results A de novo MSX1 missense mutation(c.547C>A)was identified, which resulted in the substitution of Gln at residue 183 for Lys(p.Q183K); residue 105 was located in the highly conserved region of the MSX1 protein. Mutation pathogenicity predictions showed that the mutation was highly pathogenic. Conclusion A de novo MSX1 missense mutation is identified in a patient with non-syndromic tooth agenesis, which confirms the relationship between MSX1 mutation and non-syndromic tooth agenesis and extends the mutation spectrum of the MSX1 gene.

Key words: Non-syndromic tooth agenesis, Gene mutation, Muscle segment homoebox gene 1

CLC Number: 

  • R78
[1] 刘浩辰,冯海兰. 先天缺牙遗传学病因机制研究进展[J]. 口腔生物医学, 2017, 8(1): 37-43. LIU Haochen, FENG Hailan. Advances in research on the etiology of tooth genetics[J]. Oral Biomedicine, 8(1): 37-43.
[2] Chhabra N, Goswami M, Chhabra A. Genetic basis of dental agenesis—molecular genetics patterning clinical dentistry[J]. Med Oral Patol Oral Cir Bucal, 2014, 19(2): e112-e119. doi: 10.4317/medoral.19158
[3] Lan Y, Jia S, Jiang R. Molecular patterning of the mammalian dentition[J]. Semin Cell Dev Biol, 2014, 25-26: 61-70.doi:10.1016/j.semcdb.2013.12.003.
[4] Zhang J, Liu HC, Lyu X, et al. Prevalence of tooth agenesis in adolescent Chinese populations with or without orthodontics[J]. Chin J Dent Res, 2015, 18(1): 59-65.
[5] Yu P, Yang W, Han D, et al. Mutations in WNT10B Are Identified in Individuals with Oligodontia[J]. Am J Hum Genet, 2016, 99(1): 195-201.
[6] Song S, Zhao R, He H, et al. WNT10A variants are associated with non-syndromic tooth agenesis in the general population[J]. Hum Genet, 2014, 133(1): 117-124.
[7] Liu HC, Ding TT, Zhan Y, et al. A novel AXIN2 missense mutation is associated with non-syndromic oligodontia[J]. PLoS One, 2015, 10(9): e0138221. doi:10.1371/journal.pone.0138221.
[8] Wong S, Liu HC, Bai BJ, et al. Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia[J]. Arch Oral Biol, 2014, 59(3): 349-353.
[9] Wong SW, Han D, Zhang H, et al. Nine novel PAX9 mutations and a distinct tooth agenesis genotype-phenotype[J]. J Dent Res, 2018, 97(2): 155-162.
[10] Yin W, Bian Z. The gene network underlying hypodontia[J]. J Dent Res, 2015, 94(7): 878-885.
[11] Wong SW, Liu HC, Han D, et al. A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia[J]. Mutagenesis, 2014, 29(5): 319-323.
[12] He HY, Han D, Feng HL, et al. Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population[J]. PLoS One, 2013, 8(11): e80393. doi:10.1371/journal.pone.0080393.
[13] Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations[J]. Nat Methods, 2010, 7(4): 248-249.
[14] Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels[J]. PLoS One, 2012, 7(10): e46688. doi:10.1371/journal.pone.0046688.
[15] Crooks GE, Hon G, Chandonia JM, et al. WebLogo: a sequence logo generator[J]. Genome Res, 2004, 14(6): 1188-1190.
[16] Bendall AJ, Abate-Shen C. Roles for Msx and Dlx homeoproteins in vertebrate development[J]. Gene, 2000, 247(1-2): 17-31.
[17] Blin-Wakkach C, Lezot F, Ghoul-Mazgar S, et al. Endogenous Msx1 antisense transcript: in vivo and in vitro evidences, structure, and potential involvement in skeleton development in mammals[J]. Proc Natl Acad Sci U S A, 2001, 98(13): 7336-7341.
[18] Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development[J]. Nat Genet, 1994, 6(4): 348-356.
[19] Vastardis H, Karimbux N, Guthua SW, et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis[J]. Nat Genet, 1996, 13(4): 417-421.
[20] van den Boogaard MJ, Dorland M, Beemer FA, et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans[J]. Nat Genet, 2000, 24(4): 342-343.
[21] Lidral AC, Reising BC. The role of MSX1 in human tooth agenesis[J]. J Dent Res, 2002, 81(4): 274-278.
[22] Kimura M, Machida J, Yamaguchi S, et al. Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4[J]. Eur J Oral Sci, 2014, 122(1): 15-20.
[23] Mostowska A, Biedziak B, Jagodzinski PP. Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars[J]. Arch Oral Biol, 2012, 57(6): 790-795.
[24] Kim JW, Simmer JP, Lin BP, et al. Novel MSX1 frameshift causes autosomal-dominant oligodontia[J]. J Dent Res, 2006, 85(3): 267-271.
[25] Chishti MS, Muhammad D, Haider M, et al. A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families[J]. J Hum Genet, 2006, 51(10): 872-878.
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