Journal of Prevention and Treatment for Stomatological Diseases ›› 2020, Vol. 28 ›› Issue (1): 47-51.doi: 10.12016/j.issn.2096-1456.2020.01.008

• Prevention and Treatment Practice • Previous Articles     Next Articles

Detection of MSX1 gene mutations in patients with congenital tooth loss in Van der Woude syndrome

DU Xinya1,LI Xiaoyu1,XIE Chun1,WU Bin1,SONG Guangbao2(),DU Ye1   

  1. 1.Department of Stomatology, the People′s Hospital of Longhua, Shenzhen 518000, China
    2.Department for VIP, Stomatological Hospital, Southern Medical University, Guangzhou 510280, China
  • Received:2019-01-07 Revised:2019-08-22 Online:2020-01-20 Published:2020-01-17
  • Contact: Guangbao SONG E-mail:songgb@21cn.com

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Abstract:

Objective To explore the relationship between MSX1 gene detection and tooth loss in a Van der Woude syndrome (VWS) family.Methods DNA was extracted from the venous blood of 2 patients with dental hypodontia in the 9th family of Van der Woude syndrome (VWS) families and 62 controls with complete dentition. Primers were designed for the MSXl gene. The coding regions of exons 1 and 2 of the MSX1 gene were amplified by PCR. The purified products of exons 1 and 2 of the MSX1 gene were sequenced and analyzed by sequence alignment.Results The ivs2+68 C>T polymorphism in the MSX1 gene was found in the VWS9 members with tooth loss, and the VWS patients with IRF6 gene mutations had increased tooth loss.Conclusion Congenital tooth loss in the patients with congenital missing teeth in VWS family 9 may be related to the ivs2 + 68 C> T polymorphism of the MSX1 gene.

Key words: Van der Woude syndrome, congenital missing teeth, lower lip fistula, cleft lip, cleft palate, MSX1, pathogenic gene, gene polymorphism, genetic mutations

CLC Number: 

  • R78

Figure 1

Pedigree of the family"

Table 1

MSX1 primer sequences and amplified fragment length"

Exon Primer Primer sequence Amplification length
exons 1 MSX11aF 5′CCCGGAGCCCATGCCCGGCGGCT 3′ 287 bp
MSX11aR 5′GACCACAGGAAGCCGGGGGCCAA3′
exons 1 MSX11bF 5′CCAAGGAGAGCGCCCTGGCGCCCT3′ 277 bp
MSX11bR 5′TCCCTCTGCGCCTGGGTTCTGGCT3′
exons2 MSX12aF 5′AGGCACTTGGCGGCACTCA3′ 333 bp
MSX12aR 5′CTTGTAGTCTCTTTGCCTTGG3′
exons2 MSX12bF 5′CGCCAAGGCAAAGAGACTACAAG3′ 419 bp
MSx12bR 5′CACTTTTTGGCAGGGATCAGACTTC3′

Figure 2

Dentition photo, panoramic radiograph and facial photo of the patient Ⅲ：1 and Ⅱ：1 a： patient Ⅲ：1 dentition photo; b： patient Ⅲ：1 panoramic radiograph shows 22, 42, 43, 45, and 47 missing; asterisks indicate missing teeth; c： patient Ⅲ： 1, the lip photo shows the left cleft lip after reconstruction and lower lip fistula resection; d： Ⅱ：1 dentition photo; e：Ⅱ： 1, the panoramic radiograph shows 32 and 42 missing; asterisks indicate missing teeth"

Figure 3

PCR amplification of complete exon of MSX1 gene The band of ABCD was the amplification product of MSX1, which was 277 bp, 287 bp, 333 bp, 419 bp"

Figure 4

VWS9 MSX1 exon 2 partial sequencing diagram a：Ⅲ: 1 forward sequence diagram, heterozygote CT; b:Ⅰ: 2 reverse sequence diagram, wild type homozygote CC"

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