Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.

ABSTRACT:

Background

Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in runt-related transcription factor 2 (RUNX2) gene.

Objective

Identification and functional characterization of RUNX2 mutation associated with CCD.

Methods

We performed genetic testing of a patient with CCD using whole exome sequencing and found a novel RUNX2 frameshift mutation: c.1550delT in a sporadic case. We also compared the functional activity of the mutant and wild-ty

SUBMITTER: Gong L 

PROVIDER: S-EPMC9120113 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature