The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

ABSTRACT: Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phenotypes is crucial for accurate diagnosis and management strategies. This systematic review aimed to comprehensively analyze the genotypic and phenotypic spectra of RUNX2 variants in CCD patients, assess their distribution across functional regions, and investigate genotype-phenotype correlations. This review included 569 reported variants and 453 CCD patients from 103 articles. Of 569 variants, in-frame variants constituted 48.68%, while null variants accounted for 51.32%. Regarding locations, RUNX2 variants were predominantly located in the RHD (55.54%

SUBMITTER: Thaweesapphithak S 

PROVIDER: S-EPMC11613773 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature