Abstract: This study identified a heterozygous missense mutation (p.Thr541Ala) in exons 10 of the multiple endocrine neoplasia type 1 (MEN1) gene in two male patients diagnosed with histopathologically confirmed ossifying fibroma of the jaw. Whole-exome sequencing combined with bioinformatics analysis confirmed the pathogenic potential of this variant. AlphaFold 2-based structural modeling demonstrated that this variant induces conformational changes in the functional domain and disrupts the hydrophobic core, suggesting MEN1 functional impairment may contribute to the pathogenesis ofossifying fibroma of the jaw. These findings provide novel insights into the molecular diagnosis of fibro-osseous lesions. However, the precise pathogenic mechanisms underlying this association require further investigation.

Key words: ossifying fibroma, MEN1 gene, gene mutation