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RUNX2 and Cleidocranial Dysplasia 

RUNX2 and Cleidocranial Dysplasia
Chapter:
RUNX2 and Cleidocranial Dysplasia
Author(s):

Lindsay C. Burrage

, Yangjin Bae

, Brendan H. Lee

, and Dobrawa Napierala

DOI:
10.1093/med/9780199934522.003.0050
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date: 27 February 2021

Runt-related transcription factor 2 (RUNX2) serves as a central regulator of intramembranous and endochondral ossification during embryonic skeletogenesis and postnatal development. It is required for osteoblast cell fate commitment and chondrocyte maturation. Runx2 directs the expression of multiple osteogenic genes and regulates the transition of hypertrophic chondrocytes to primary spongiosa. Haploinsufficiency of RUNX2 causes a dominantly inherited skeletal disorder: cleidocranial dysplasia (CCD). The classic form of CCD is characterized by the triad of delayed closure of the fontanel, hypoplastic clavicles, and dental anomalies. However, genotype–phenotype studies show that RUNX2 mutations also result in a range of phenotypes from mild CCD, predominated by dental features, to severe CCD, complicated by significant osteoporosis. The clinical diagnosis is confirmed by pathognomonic findings from radiographic studies. In vitro and mouse model studies, as well as characterization of CCD-related conditions, provide greater understanding of the RUNX2 regulatory networks in skeletal development and homeostasis.

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