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

J Bone Miner Metab. 2001;19(4):263-6. doi: 10.1007/s007740170030.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Clavicle / diagnostic imaging
  • Cleidocranial Dysplasia / diagnostic imaging
  • Cleidocranial Dysplasia / 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*

Substances

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