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Annals of Clinical & Laboratory Science 37:115-120 (2007)
© 2007 Association of Clinical Scientists

A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia

Lorenzo Lo Muzio1, Stefano Tetè2, Filiberto Mastrangelo2, Angela Pia Cazzolla3, Maria Grazia Lacaita3, Maurizio Margaglione4,5 and Giuseppina Campisi6
1 Department of Surgical Sciences, University of Foggia, Foggia; 2 Department of Oral Sciences, University of Chieti, Chieti; 3 Department of Dentistry and Surgery, University of Bari, Bari; 4 Department of Biomedical Sciences, University of Foggia, Foggia; 5 IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo; and 6 Department of Dental Sciences, University of Palermo, Palermo, Italy

Address correspondence to Professor Lorenzo Lo Muzio, Via Carelli 28, 71100 Foggia, Italy; fax 39 881 685809; e-mail lomuziol{at}tin.it.

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segments from the patient’s CBFA1/RUNX2 gene were identical to those obtained in controls, except for the one spanning the exon 7 and intron/exon boundary regions. Direct sequencing of the PCR product showed a heterozygous T-to-A transition mutation at nucleotide 1182 in exon 7, leading to Y394X mutation. The predicted protein product lacks 128 amino acids, including part of the PST domain. Identification of this novel mutation constitutes a further step in elucidating the pathogenesis of this autosomal disorder.

Keywords: cleidocranial dysplasia, CBFA1/RUNX2 gene, CBFA1/RUNX2 nonsense mutation




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D. Xuan, S. Li, X. Zhang, F. Hu, L. Lin, C. Wang, and J. Zhang
Mutations in the RUNX2 Gene in Chinese Patients with Cleidocranial Dysplasia
Ann. Clin. Lab. Sci., January 1, 2008; 38(1): 15 - 24.
[Abstract] [Full Text] [PDF]


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