Abstract
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2αA (PEBP2αA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)–single-strand conformation polymorphism and PCR–restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain.
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Received: November 13, 2000 / Accepted: December 25, 2000
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Goseki-Sone, M., Orimo, H., Watanabe, A. et al. Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia. J Bone Miner Metab 19, 263–266 (2001). https://doi.org/10.1007/s007740170030
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DOI: https://doi.org/10.1007/s007740170030