Dental implications in Hajdu–Cheney syndrome: A novel case report and review of the literature

Objective To identify the molecular genetic etiology of an individual with a dysmorphic face, unusual teeth mobility, and root resorption. Subjects and Methods DNA samples were collected from a trio of family members, and whole‐exome sequencing was performed. Results Mutational analysis revealed a de novo mutation (c.6787C>T) in the last exon of the NOTCH 2 gene. This mutation would introduce a premature stop codon [p.(Gln2263*)] and generate a truncated protein without C‐terminus, escaping from the nonsense‐mediated decay system. Sanger sequencing confirmed that this mutation was generated spontaneously. Conclusions In this study, we identified a novel nonsense mutation in the last exon of the NOTCH 2 gene causing Hajdu–Cheney syndrome. We described the genotype and phenotype correlation and the related dental complications. These results will advance the understanding of the NOTCH 2 signaling in periodontitis and root resorption.