A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia / 대한소아치과학회지
Journal of Korean Academy of Pediatric Dentistry
; (4): 409-415, 2019.
Article
in Ko
| WPRIM
| ID: wpr-787389
Responsible library:
WPRO
ABSTRACT
Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption.The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Osteogenesis
/
Tooth
/
Tooth Eruption
/
Tooth, Supernumerary
/
Transcription Factors
/
Exons
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Clavicle
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Cleidocranial Dysplasia
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Sequence Deletion
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Codon, Nonsense
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
Language:
Ko
Journal:
Journal of Korean Academy of Pediatric Dentistry
Year:
2019
Type:
Article