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KMID : 0358920190460040409
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Journal of the Korean Academy of Pedodontics
2019 Volume.46 No. 4 p.409 ~ p.415
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A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia
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Lee Ji-Won
Song Ji-Soo
Shin Teo-Jeon
Hyun Hong-Keun
Kim Young-Jae
Lee Sang-Hoon
Kim Jong-Bin
Kim Jung-Wook
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Abstract
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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.
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KEYWORD
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RUNX2, Cleidocranial dysplasia, Deletion mutation, Frameshift, Delayed eruption
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