Oral diseases · 2018
Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод пока не подготовлен
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Lee J W, Kim Y J, Kang J, Shin T J, Hyun H-K, Kim Y-J, Lee S-H, Lee Z H, Kim J-W
Аннотация
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.
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.