Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

ABSTRACT:

Objectives

Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. To characterize detailed phenotypes and identify variants causing CCD in five unrelated patients and their family members.

Methodology

Clinical and radiographic examinations were performed. Genetic variants were identified by exome and Sanger sequencing, data were analyzed by bioinformatics tools.

Results

Three cases were sporadic and two were familial. Exome sequencing successfully detected the hetero

SUBMITTER: Thaweesapphithak S 

PROVIDER: S-EPMC9239300 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature