Amelogenesis Imperfecta:AMELX Novel Variant And Management

Amelogenesis imperfecta (AI) is a rare genetic disorder that severely affects dental function. This study characterizes a novel AMELX variant in a Chinese pedigree, providing a basis for the clinical diagnosis, treatment, and genetic counseling of the disease. A 9-year-old female exhibited generalized tooth discoloration persisting for one year, with enamel fragmentation, and incisal edge erosion. Radiography confirmed hypoplastic enamel. Whole-exome sequencing identified a novel AMELX missense variant (c.154C>A, p.Pro52Thr) in exon 3, validated by Sanger sequencing. X-linked inheritance was confirmed through segregation analysis. Staged rehabilitation using glass ionomer cement and preformed crowns restored function, with 12-month follow-up showing caries arrest and occlusal stability. Diagnosis of AI requires integrated clinical-radiographic evaluation, pedigree analysis, and genetic testing to identify causative variants and guide counseling. Early multidisciplinary intervention-encompassing pediatric dentistry, prosthodontics, and orthodontics-is critical for preserving oral function and psychosocial well-being. Primary dentition management prioritizes space maintenance and vertical dimension preservation to facilitate permanent dentition eruption and craniofacial development. Mixed dentition strategies focus on structural preservation, pulpal vitality, and aesthetic optimization. Our case demonstrates preformed metal crowns effectively prevent caries while maintaining occlusal relationships. Adult rehabilitation requires multidisciplinary coordination to address advanced complications like severe attrition. We identified a novel AMELX missense variant (c.154C>A, p.Pro52Thr) in an AI pedigree, expanding its mutational landscape. Future studies must delineate genotype-phenotype correlations to unravel AMELX's structural-functional dynamics, informing precision therapies for developmental defects of enamel.