Chinese Journal of Dental Research

Chin J Dent Res
CN 10-1194/R . ISSN 1462-6446 . eISSN 1867-5646 . Quarterly

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Chin J Dent Res 2024;27(1):83–88; doi:10.3290/j.cjdr.b5128601

Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome

Writer:Hai Tang YUE, Hai Yan CAO, Miao HE Clicked:

Objective: To assess the current periodontal status of 35 to 44-year-olds from the Chinese population and to analyse potential influence factors on periodontal disease. Methods: The data of subjects were collected from both urban and rural areas of all 31 provinces, autonomous regions and municipalities of the mainland of China, as part of the 4th National Oral Health Survey. All subjects were aged 35 to 44 years old. In total, 4410 subjects were enrolled in the present study. Each subject was asked to undergo a professional oral examination and to fill in a questionnaire. Periodontal health status was evaluated by probe bleeding, calculus, periodontal pocket depth and clinical attachment loss. The data were analysed using the chi-square test and binary logistic regression analysis. Results: The prevalence of probe bleeding and calculus was 87.4% and 96.7% respectively among the 35 to 44-year-old population. Prevalence of shallow pockets (4 mm PD 6 mm) and deep pockets (PD 6 mm) was 52.7% and 6.9% respectively

Objective: To analyse the aetiology and pathogenesis of Gorlin-Goltz syndrome (GS; also known as nevoid basal cell carcinoma syndrome [NBCCS] or basal cell nevus syndrome [BCNS]) in a Chinese family.
Methods: Whole-exome sequencing (WES) was performed on genomic DNA samples from the subjects in a family, followed by the investigation of pathogenesis via bioinformatic approaches and conformational analysis.
Results: A novel heterozygous non-frameshift deletion patched 1 (PTCH1) [NM_000264: c.3512_3526del (p.1171_1176del)] was identified by WES and further validated by Sanger sequencing. Bioinformatic and conformational analysis showed that the mutation caused altered PTCH1 protein structure, which may be related to functional abnormalities.
Conclusion: This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.

Keywords: Gorlin-Goltz syndrome, mutation, nevoid basal cell carcinoma syndrome, PTCH1, whole-exome sequencing (editor:CJDR)