J W Lee1, Y J Kim2, J Kang2, T J Shin1, H-K Hyun1, Y-J Kim1, S-H Lee1, Z H Lee3, J-W Kim1,2. 1. Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea. 2. Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea. 3. Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
Abstract
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 NOTCH2 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 NOTCH2 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 NOTCH2 signaling in periodontitis and root resorption.
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 NOTCH2 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 NOTCH2 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 NOTCH2 signaling in periodontitis and root resorption.
Authors: Jonathan Cortés-Martín; Lourdes Díaz-Rodríguez; Beatriz Piqueras-Sola; Juan Carlos Sánchez-García; Antonio Liñán González; Raquel Rodríguez-Blanque Journal: J Clin Med Date: 2022-09-02 Impact factor: 4.964
Authors: Jonathan Cortés-Martín; Lourdes Díaz-Rodríguez; Beatriz Piqueras-Sola; Juan Carlos Sánchez-García; María José Menor-Rodríguez; Raquel Rodríguez-Blanque Journal: Int J Environ Res Public Health Date: 2022-06-18 Impact factor: 4.614
Authors: Jonathan Cortés-Martín; Juan Carlos Sánchez-García; Beatriz Piqueras-Sola; Raquel Rodríguez-Blanque; María Isabel Tovar-Gálvez; Lourdes Díaz-Rodríguez Journal: Diagnostics (Basel) Date: 2022-02-23