A novel phex gene variant causes non-syndromic tooth agenesis.

ABSTRACT:

Objectives

For a long time, phosphate regulating endopeptidase X-linked (phex) gene variants have been considered the primary cause of hypophosphatemic rickets. Here, we recruited a pedigree with non-syndromic tooth agenesis (NSTA), where all patients exhibit solely the absence of mandibular central incisors, indicating a highly conserved clinical phenotype. This observation leads us to hypothesize a potential connection between phex variants and NSTA.

Materials and methods

Whole-exome sequencing and genetic co-segregation analysis were employed to investigate the genetic basis of NSTA in this family. To further explore this hypothesis, we used phex knockdown zebrafish models and dental pulp stem cells (DPSCs) from the patient (DPSCs-MUT) and normal control (DPSCs-CON) to as

SUBMITTER: Pan Y 

PROVIDER: S-EPMC12465968 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature