An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation.

ABSTRACT: Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia, and dental abnormalities. Mutations involving Runt-related transcription factor 2 (RUNX2) are currently the only known molecular etiology for CCD but are not identified in all CCD patients. No RUNX2 abnormality can be detected in about 20-30% of patients, and the molecular cause remains unknown. The present study includes a family case with typical features of CCD. RUNX2 mutation was first screened by sequencing analysis, and no mutation was detected. Copy number alterations of the RUNX2 gene were then measured by quantitative PCR and multiplex ligation-dependent probe amplification (MLPA). No copy number variation in R

SUBMITTER: Liu D 

PROVIDER: S-EPMC8560734 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature