Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.
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.
Goseki-Sone
M
M
Department of Food and Nutrition, Japan Women's University, Tokyo.
Orimo
H
H
Watanabe
A
A
Hamatani
R
R
Yokozeki
M
M
Ohyama
K
K
Kuroda
T
T
Watanabe
H
H
Miyazaki
H
H
Shimada
T
T
Oida
S
S
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002968:Clavicle / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D004247:DNA / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D008297:Male; D009363:Neoplasm Proteins; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011859:Radiography; D014070:Tooth / Q000000981:diagnostic imaging; D014157:Transcription Factors / Q000235:genetics*
D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors; D004247:DNA