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Peer-reviewedCC BYDentistry journal

Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant.

  • Ludovica Fortuna1,2
  • Roberto Bertozzi1,2
  • Valentina Trevisan3
  • Chiara Leoni3
  • Angelo Minucci1,2
  • Maurizio Genuardi4,5
  • Gaetano Isola6,7
  • Cristina Grippaudo8,9
  • Elisabetta Tabolacci4,5
9 affiliations
  1. 1Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  2. 2Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  3. 3Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  4. 4Department of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of the Sacred Heart, 00168 Rome, Italy.
  5. 5Complex Operational Unit of Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  6. 6Unit of Periodontology, Department of General Surgery and Surgical-Medical Specialties, School of Dentistry, University of Catania, 95123 Catania, Italy.
  7. 7International Research Center on Periodontal and Systemic Health "PerioHealth", University of Catania, 95123 Catania, Italy.
  8. 8UOC Clinica Odontoiatrica, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  9. 9Dipartimento Universitario Testa Collo ed Organi di Senso, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
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Abstract

Background: Tooth agenesis is one of the most common developmental anomalies of the human dentition and may occur either as an isolated trait or as part of a syndromic condition. Advances in genomic technologies have facilitated the identification of genes involved in odontogenesis, including LEF1 (Lymphoid Enhancer-Binding Factor 1), a key transcription factor in the WNT signaling pathway. Methods: Whole exome sequencing (WES) was performed in a proband with non-syndromic tooth agenesis to investigate the underlying genetic cause. Parental segregation analysis was performed through Sanger sequencing, and in silico prediction tools were used to assess the potential clinical relevance of the identified variant. A review of the current literature on LEF1-associated dental phenotypes was also conducted. Results: WES identified a novel heterozygous LEF1 variant, c.903G>C, p.(Lys301Asn). The variant co-segregated with the phenotype, being detected in the affected father and absent in the unaffected mother. Although the available evidence is currently insufficient to establish pathogenicity, computational predictions and the known biological role of LEF1 in odontogenesis support its potential functional significance. Conclusions: This study reports a novel LEF1 variant identified in a family with familial non-syndromic tooth agenesis and highlights the importance of integrating genomic findings with clinical and segregation data to inform variant interpretation in hereditary dental anomalies. Further functional and independent genetic evidence will be required to establish the clinical significance of this variant.

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Cite

BibTeXRIS
BibTeX
@article{fortuna2026clinical,
  title = {{Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant.}},
  author = {Ludovica Fortuna and Roberto Bertozzi and Valentina Trevisan and Chiara Leoni and Angelo Minucci and Maurizio Genuardi and Gaetano Isola and Cristina Grippaudo and Elisabetta Tabolacci},
  journal = {Dentistry journal},
  year = {2026},
  month = oct,
  doi = {10.3390/dj14100659},
  url = {https://europepmc.org/article/MED/42930425},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant.
AU  - Ludovica Fortuna
AU  - Roberto Bertozzi
AU  - Valentina Trevisan
AU  - Chiara Leoni
AU  - Angelo Minucci
AU  - Maurizio Genuardi
AU  - Gaetano Isola
AU  - Cristina Grippaudo
AU  - Elisabetta Tabolacci
PY  - 2026
DA  - 2026/10/10
JO  - Dentistry journal
DO  - 10.3390/dj14100659
UR  - https://europepmc.org/article/MED/42930425
AB  - Background: Tooth agenesis is one of the most common developmental anomalies of the human dentition and may occur either as an isolated trait or as part of a syndromic condition. Advances in genomic technologies have facilitated the identification of genes involved in odontogenesis, including LEF1 (Lymphoid Enhancer-Binding Factor 1), a key transcription factor in the WNT signaling pathway. Methods: Whole exome sequencing (WES) was performed in a proband with non-syndromic tooth agenesis to investigate the underlying genetic cause. Parental segregation analysis was performed through Sanger sequencing, and in silico prediction tools were used to assess the potential clinical relevance of the identified variant. A review of the current literature on LEF1-associated dental phenotypes was also conducted. Results: WES identified a novel heterozygous LEF1 variant, c.903G>C, p.(Lys301Asn). The variant co-segregated with the phenotype, being detected in the affected father and absent in the unaffected mother. Although the available evidence is currently insufficient to establish pathogenicity, computational predictions and the known biological role of LEF1 in odontogenesis support its potential functional significance. Conclusions: This study reports a novel LEF1 variant identified in a family with familial non-syndromic tooth agenesis and highlights the importance of integrating genomic findings with clinical and segregation data to inform variant interpretation in hereditary dental anomalies. Further functional and independent genetic evidence will be required to establish the clinical significance of this variant.
SN  - 2304-6767
ER  -