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)
|