A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant inherited skeletal disease with high penetrance and variable expressivity. Although many mutations in RUNX2/CBFA1, an osteoblast-specific transcription factor, have been identified as causes of CCD, it is unclear whether these mutation genotypes relate to various symptoms. Heterogeneous mutations of RUNX2/CBFA1 result in disease characterized by abnormal skeletal genesis and dental disorders. There are few reports describing the relation between detailed orofacial pathology and the RUNX2/CBFA1 genotype. The case of a Japanese patient with severe orofacial dysplasia who was clinically thought to have CCD is described here. The authors performed mutation analysis on the RUNX2/CBFA1 gene and identified a novel frameshift mutation (722delT), which produces a mutant RUNX2/CBFA1 with a truncating C-terminus distal to the runt domain.
Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Nagoya, Japan.
M
M
Kamamoto
J
J
Machida
H
H
Miyachi
T
T
Ono
A
A
Nakayama
K
K
Shimozato
Y
Y
Tokita
D000328:Adult; D044466:Asian People / Q000235:genetics; D002508:Cephalometry; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D018389:Codon, Nonsense; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D008297:Male; D008437:Maxilla / Q000002:abnormalities / Q000000981:diagnostic imaging; D017434:Protein Structure, Tertiary / Q000235:genetics; D011859:Radiography; D063173:Retrognathia / Q000235:genetics; D014078:Tooth Eruption / Q000235:genetics*; D014096:Tooth, Supernumerary / Q000235:genetics
D018389:Codon, Nonsense; D050659:Core Binding Factor Alpha 1 Subunit