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
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