A novel gene PHEX mutation causes non-syndromic tooth agenesis

For a long time, phosphate regulating endopeptidase X-linked (PHEX) gene mutations 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 mutations and NSTA.