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SYSTEMATIC REVIEW article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1377716

The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutation in fibrous dysplasia: A meta-analysis

Provisionally accepted
Aobo Zhang Aobo Zhang Jianyun Zhang Jianyun Zhang Jiang Xue Jiang Xue Lisha Sun Lisha Sun *Tiejun Li Tiejun Li
  • Peking University Hospital of Stomatology, Beijing, Beijing Municipality, China

The final, formatted version of the article will be published soon.

    Background: There is inconsistent evidence regarding the accuracy of GNAS mutations identification for the diagnosis of FD/MAS. This study was performed to estimate the prevalence and diagnosis accuracy of GNAS mutations detection and preliminarily investigate the genotype-phenotype correlation in FD.Methods: Five electronic databases were searched from 1995 to 2024 using search terms related to GNAS and fibrous dysplasia. Observational studies of FD patients undergoing GNAS mutation detection in FD were included.Results: Total 878 FD patients were included. The pooled prevalence of GNAS mutations in FD based on the random effects model was 74% (95% CI= 64% to 83%). Regarding diagnostic accuracy, a sensitivity of 0.83 (95% CI, 0.65 to 0.96), specificity of 0.99 (95% CI, 0.98 to 1.00) and the area under the receiver operating characteristic curve of 98.38% were found. Additionally, meta-analysis and Fisher's test showed the GNAS mutation types were significantly associated with FD types (OR = 3.51, 95% CI = 1.05 to 11.72; p < 0.05).A high detection rate of GNAS mutation occurred in FD, and its detection is reliable for diagnosing FD. Additionally, GNAS mutation types were significantly associated with FD types.

    Keywords: Gnas, Fibrous dysplasia, Diagnostic accuracy, meta- analyses, McCune Albright

    Received: 05 Feb 2024; Accepted: 17 May 2024.

    Copyright: © 2024 Zhang, Zhang, Xue, Sun and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Lisha Sun, Peking University Hospital of Stomatology, Beijing, 100081, Beijing Municipality, China

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