Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
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.
Department of Biochemistry and Molecular Biology, Medical University, Lublin, Poland.|Postgraduate School of Molecular Medicine, Warsaw, Poland.
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Jaruga
Department of Biochemistry and Molecular Biology, Medical University, Lublin, Poland.|Postgraduate School of Molecular Medicine, Warsaw, Poland.
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Hordyjewska
Children Orthopaedic and Rehabilitation Department, Medical University of Lublin, Lublin, Poland.
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Kandzierski
Department of Biochemistry and Molecular Biology, Medical University, Lublin, Poland. przemko@med.kuleuven.be.|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.
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Tylzanowski
D002973:Cleidocranial Dysplasia / Q000235:genetics* / Q000503:physiopathology; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human
CBFA1; Cleidocranial dysplasia; RUNX2; genetics; skeletal disorders