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

ABSTRACT:

Objective

Natal teeth are teeth that are present at birth. Multiple natal teeth are extremely rare. The objective of this study was to find the molecular aetiology of a unique dental phenotype including natal teeth, tooth agenesis, and root maldevelopment in a 5-generation family.

Methods

Oral and radiographic examination, linkage analysis, whole genome sequencing, and an immunohistochemical study of Kdf1 during tooth development in the mouse embryo were performed. A protein model was generated.

Results

We report a 5-generation family in which multiple natal teeth, oligodontia, and root maldevelopment manifested with autosomal dominant inheritance. Linkage analysis and whole genome sequencing revealed a novel pathogenic variant c.845T>G; p.Ile282Ser, which cosegregate

SUBMITTER: Graham JM 

PROVIDER: S-EPMC12240073 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature