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Publications

Journal Article Epublish

PubMed: 39941240 DOI: 10.3390/diagnostics15030310

Exonic and Intronic Variants Isolated from Korean Children with Non-Syndromic Tooth Agenesis.

Diagnostics (Basel) 15(3)

Authors: Yeonjin Ju, Joo Yeon Lee, Woochang Hwang, Jonghyun Shin, Hyung-Sik Kim, Junho K Hur, Eungyung Lee

Affiliations

  • Department of Pediatric Dentistry, School of Dentistry, Dental and Life Science Institute, Pusan National University, Yangsan 50612, Republic of Korea. Department of Pediatric Dentistry, Dental Research Institute, Pusan National University Dental Hospital, Yangsan 50612, Republic of Korea.
  • New Drug Development Center, OSONG Medical Innovation Foundation, Cheongju 28160, Republic of Korea. Department of Biomedical Science, Graduate School of Medicine, Hanyang University, Seoul 04763, Republic of Korea.
  • Department of Pre-Medicine, College of Medicine, Hanyang University, Seoul 04763, Republic of Korea. Hanyang Institute of Bioscience and Biotechnology, Hanyang University, Seoul 04763, Republic of Korea.
  • Department of Oral Biochemistry, School of Dentistry, Pusan National University, Yangsan 50612, Republic of Korea. Dental and Life Science Institute, Pusan National University, Yangsan 50612, Republic of Korea.
  • Department of Biomedical Science, Graduate School of Medicine, Hanyang University, Seoul 04763, Republic of Korea. Hanyang Institute of Bioscience and Biotechnology, Hanyang University, Seoul 04763, Republic of Korea. Department of Genetics, College of Medicine, Hanyang University, Seoul 04763, Republic of Korea.

Abstract

: Tooth agenesis (TA) is a developmental anomaly prevalent in humans. It is particularly significant in children and adolescents because it is related to esthetic, physiological, and functional problems, including malocclusion, periodontal damage, and insufficient alveolar growth. mutations have been identified as the main genetic alterations associated with tooth agenesis. Most previous studies have investigated mutations in patients with tooth agenesis using single nucleotide polymorphism (SNP) arrays or exome sequencing. In this study, we conducted a comprehensive profiling of mutations within the exons and introns of in Korean patients with non-syndromic tooth agenesis. : Saliva samples were collected from Korean children and adolescents with non-syndromic tooth agenesis. Tagmentation-based sequencing was conducted to acquire mutation information for all exonic and intronic bases of the gene. : Mutations were detected exclusively in the patient samples: 629C>G and 1100C>T in exon 1, 1977T>C in intron 1, 10256C>T and 10382G>A in exon 3, and 15953G>A in intron 4. Additional mutations were also observed at high ratios in the patient samples. : The mutations identified in this study differ from previous findings. These results may provide useful information for understanding the pathogenicity of mutations in Korean patients with tooth agenesis and support future diagnostic and therapeutic approaches.

MeSH

Genetic Variation, Genes, Tooth, Introns, Exons, Adolescent, Mutation, Child