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Related Experiment Video

Updated: Sep 18, 2025

Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology

Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology

Published on: August 22, 2022

A Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment.

John M Graham¹, Pedro A Sanchez-Lara¹, Atsushi Ohazama²

¹Department of Pediatrics, Division of Medical Genetics, Guerin Children's Hospital at Cedars-Sinai Medical Center, and David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

International Dental Journal

|June 24, 2025

Summary

A rare genetic variant in the KDF1 gene causes natal teeth, tooth agenesis, and root maldevelopment. This finding highlights KDF1

Keywords:

Hypodontia Multiple natal teeth Natal teeth Oligodontia Root maldevelopment Taurodontism Tooth agenesis Unseparated roots

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Area of Science:

Genetics
Developmental Biology
Oral Biology

Background:

Natal teeth (present at birth) are rare.
Multiple natal teeth, oligodontia (missing teeth), and root maldevelopment are exceptionally uncommon.
Understanding the genetic basis of these dental anomalies is crucial.

Purpose of the Study:

To investigate the molecular cause of a rare dental phenotype in a 5-generation family.
To identify the genetic variant responsible for natal teeth, tooth agenesis, and root maldevelopment.

Main Methods:

Family history and clinical examinations were conducted.
Whole genome sequencing and linkage analysis identified a novel variant.
Immunohistochemistry in mouse embryos and protein modeling were performed.

Main Results:

A novel pathogenic variant (c.845T>G; p.Ile282Ser) in the KDF1 gene was identified.
This variant segregated with the autosomal dominant inheritance pattern in the family.
The mutation disrupts KDF1 protein function, affecting tooth development.

Conclusions:

A KDF1 gene variant is the cause of natal teeth, tooth agenesis, and root maldevelopment.
This study underscores the critical role of KDF1 in tooth formation and eruption.
The findings provide insights into the molecular mechanisms of dental development.