Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

Abstract excerpt

Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case...

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