A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia (한국인 쇄골 두개 이형성증 가족에서의 RUNX2 유전자 돌연변이)

Ji Won Lee (이지원); Ji-Soo Song (송지수); Shin Teo Jeon (신터전); Hong-Keun Hyun (현홍근); Kim, Young J (김영재); Sang-Hoon Lee (이상훈); Kim Jongbin (김종빈); Kim, JungWook (김정욱)

doi:10.5933/JKAPD.2019.46.4.409

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.

KEYWORDS

RUNX2, Cleidocranial dysplasia, Deletion mutation, Frameshift, Delayed eruption

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Journal of the Korean academy of pediatric dentistry 2025 KCI Impact Factor : 0.43

A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia

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Journal of the Korean academy of pediatric dentistry 2025 KCI Impact Factor : 0.43

A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia

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KEYWORDS

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