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A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia

  • Journal of the Korean academy of pediatric dentistry
  • Abbr : J Korean Acad Pediatr Dent
  • 2019, 46(4), pp.409-415
  • DOI : 10.5933/JKAPD.2019.46.4.409
  • Publisher : The Korean Academy Of Pediatric Dentistry
  • Research Area : Medicine and Pharmacy > Dentistry
  • Received : August 16, 2019
  • Accepted : September 19, 2019
  • Published : November 27, 2019

Ji Won Lee 1 Ji-Soo Song 2 Shin Teo Jeon 3 Hong-Keun Hyun 3 Kim, Young J 3 Sang-Hoon Lee 3 Kim Jongbin 4 Kim, JungWook 3

1서울대학교치과병원
2서울대학교 치의학대학원 소아치과학교실
3서울대학교
4단국대학교

Accredited

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.

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