Akademik Veri Yönetim Sistemi
International Dental Journal, cilt.76, sa.1, 2026 (SCI-Expanded, Scopus)
DVL3 regulates tooth initiation, root formation, and craniofacial patterning through canonical and non-canonical WNT signalling. The objective of this study was to investigate the dental and craniofacial phenotypes associated with rare or novel DVL3 variants in Thai and Turkish patients. It aimed to broaden the understanding of the clinical spectrum of DVL3-related conditions, particularly their role in odontogenesis and craniofacial development. We evaluated 11 patients from Thai and Turkish cohorts with confirmed DVL3 variants through clinical, radiographic, and whole-exome and Sanger sequencing. All patients exhibited variable dental anomalies, including root malformations, oral exostoses, and mesiodens. Unlike the broader craniofacial and skeletal manifestations seen in syndromic Robinow syndrome, these cohorts demonstrated a dental-predominant phenotype, indicating a possible genotype-phenotype distinction. These findings highlight the role of canonical-noncanonical WNT signalling dysregulation in odontogenesis and dentoalveolar development. Rare or novel DVL3 variants can manifest primarily as complex dental anomalies with or without syndromic features. Early recognition and genetic evaluation of such cases are essential for accurate diagnosis, clinical management, and counselling. This study provides novel insights into the role of DVL3 in tooth and craniofacial development, with implications for future research and interdisciplinary care.