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Clin Genet. 2016 Nov;90(5):393-402. doi: 10.1111/cge.12812. Epub 2016 Jun 30.

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Author information

1
Department of Biochemistry and Molecular Biology, Medical University, Lublin, Poland.
2
Postgraduate School of Molecular Medicine, Warsaw, Poland.
3
Children Orthopaedic and Rehabilitation Department, Medical University of Lublin, Lublin, Poland.
4
Department of Biochemistry and Molecular Biology, Medical University, Lublin, Poland. przemko@med.kuleuven.be.
5
Laboratory for Developmental and Stem Cell Biology, Department of Development and Regeneration, Skeletal Biology and Engineering Research Centre, University of Leuven, Leuven, Belgium. przemko@med.kuleuven.be.

Abstract

Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles. Here, we summarize recent knowledge about RUNX2 function, mutations and their phenotypic consequences in patients.

KEYWORDS:

CBFA1; Cleidocranial dysplasia; RUNX2; genetics; skeletal disorders

PMID:
27272193
DOI:
10.1111/cge.12812
[Indexed for MEDLINE]

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