Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/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.

• Authors: M Goseki-Sone, H Orimo, A Watanabe, R Hamatani, M Yokozeki, K Ohyama, T Kuroda, H Watanabe, H Miyazaki, T Shimada, S Oida
• Journal: Journal of bone and mineral metabolism (J Bone Miner Metab) Vol. 19 Issue 4 Pg. 263-6 ( 2001) ISSN: 0914-8779 [Print] Japan
• PMID: 11448020 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Core Binding Factor Alpha 1 Subunit
• Neoplasm Proteins
• Transcription Factors
• DNA

Topics

• Adolescent
• Amino Acid Sequence
• Base Sequence
• Clavicle (diagnostic imaging)
• Cleidocranial Dysplasia (diagnostic imaging, genetics)
• Core Binding Factor Alpha 1 Subunit
• DNA (genetics)
• Frameshift Mutation
• Humans
• Japan
• Male
• Neoplasm Proteins
• Phenotype
• Polymorphism, Restriction Fragment Length
• Polymorphism, Single-Stranded Conformational
• Radiography
• Tooth (diagnostic imaging)
• Transcription Factors (genetics)