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Dental implications in Hajdu–Cheney syndrome: A novel case report and review of the literature
Author(s) -
Lee JW,
Kim YJ,
Kang J,
Shin TJ,
Hyun HK,
Kim YJ,
Lee SH,
Lee ZH,
Kim JW
Publication year - 2018
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12859
Subject(s) - sanger sequencing , nonsense mutation , genetics , exon , exome sequencing , mutation , nonsense , biology , stop codon , gene , nonsense mediated decay , rna splicing , rna , missense mutation
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.