Delayed tooth eruption as an early clinical indicator of genetical tooth agenesis: A family-based study of cases with whole-exome sequencing

Authors

• Yu-Chen Jeng, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
• I-Ting Chen, Department of Stomatology, National Cheng Kung University Hospital, Tainan, Taiwan
• Hui-Ching Cheng, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
• Hsin-Yu Huang, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
• Chao-Kai Hsu, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
• Yu-Fen Yen, Department of Stomatology, National Cheng Kung University Hospital, School of Dentistry & Institute of Oral Medicine, National Cheng Kung University, Tainan, TaiwanFollow

First Page

1965

Last Page

1968

Abstract

Delayed tooth eruption is frequently considered a benign developmental variation but may represent an early sign of genetically driven tooth agenesis. We evaluated a 22-month-old female presenting with markedly delayed eruption (only eight primary teeth) and a positive family history of ectodermal features. Given the inconclusive early radiographic findings, whole-exome sequencing (WES) was utilized. WES revealed the proband carried a heterozygous EDARADD variant (NM_080738:c.328G>T; p.Asp110Tyr). Subsequent familial segregation analysis identified an additional heterozygous WNT10A variant (NM_025216:c.637G>A; p.Gly213Ser) within the broader family. The EDARADD variant alone was associated with varying presentations from normal dentition to delayed eruption. Furthermore, the WNT10A variant alone correlated with distinct tooth agenesis, whereas their coexistence exacerbated the phenotype, resulting in severe agenesis and ectodermal features. This case demonstrates WES provides critical diagnostic insight when radiographic evaluation is inconclusive in young patients, facilitating precision dentistry.

Recommended Citation

Jeng, Yu-Chen; Chen, I-Ting; Cheng, Hui-Ching; Huang, Hsin-Yu; Hsu, Chao-Kai; and Yen, Yu-Fen (2025) "Delayed tooth eruption as an early clinical indicator of genetical tooth agenesis: A family-based study of cases with whole-exome sequencing," Journal of Dental Sciences: Vol. 21: Iss. 3, Article 67.
Available at: https://jds.ads.org.tw/journal/vol21/iss3/67

Publication Date

2025