Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes Analysis of a Turkish cohort

Purpose The goal of this study was to assess genes known to be associated with tooth agenesis with next-generation sequencing (NGS) and analyze the relationship between these mutations and tooth agenesis phenotypes. Methods The study included 49 individuals aged between 6 and 13 years. A total of 14...

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Veröffentlicht in:Journal of orofacial orthopedics Jg. 83; H. Suppl 1; S. 65 - 74
Hauptverfasser: Keskin, Gül, Karaer, Kadri, Uçar Gündoğar, Zübeyde
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Heidelberg Springer Medizin 01.10.2022
Schlagworte:
Anodontia - diagnosis
Anodontia - epidemiology
Anodontia - genetics
Calcium-Binding Proteins - genetics
Cysteine - genetics
Dentistry
High-Throughput Nucleotide Sequencing
Humans
Keratin-17 - genetics
Medicine
Mutation - genetics
Oral and Maxillofacial Surgery
Original Article
Receptors, Lipoprotein - genetics
Turkey
Turkey
Oligodontie
Hypodontie
Hypodontia
Amino acid sequence
Aminosäuresequenz
MSX1
AXIN2
Oligodontia
ISSN:1434-5293, 1615-6714, 1615-6714
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Zusammenfassung:Purpose The goal of this study was to assess genes known to be associated with tooth agenesis with next-generation sequencing (NGS) and analyze the relationship between these mutations and tooth agenesis phenotypes. Methods The study included 49 individuals aged between 6 and 13 years. A total of 14 genes related to nonsyndromic tooth agenesis were selected for targeted NGS. Mutations in Msh homeobox 1 ( MSX1 ), Wnt family member 10A ( WNT10A ), axis inhibition protein 2 ( AXIN2 ), keratin 17 ( KRT17 ), lipoprotein receptor 6 ( LRP6 ), and secreted protein, acidic and rich in cysteine (SPARC)-related modular calcium-binding protein 2 ( SMOC2 ) genes were investigated. Results Mutations in six genes were detected in 12 of 49 subjects. Fifteen variants were identified, including the unknown variants c.657G > C in MSX1 , c.2029C > T in AXIN2 , and c.1603A > T in LRP6 . Second premolar tooth agenesis was observed in 43.3% of all tooth agenesis cases with mutations, and it was the predominant phenotype observed for each mutated gene, followed by tooth agenesis of the lateral incisors (20%). Conclusions Variations in MSX1, WNT10A, AXIN2, KRT17, LRP6 , and SMOC2 may be a risk factor for hypodontia or oligodontia in the Turkish population.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1434-5293
1615-6714
1615-6714
DOI:10.1007/s00056-021-00284-4