J Korean Acad Pediatr Dent.  2019 Nov;46(4):409-415. 10.5933/JKAPD.2019.46.4.409.

A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia

• Lee JW
• Song J
• Shin TJ
• Hyun HK
• Kim YJ
• Lee SH
• Kim J
• Kim JW

• KMID: 2467077
• DOI: http://doi.org/10.5933/JKAPD.2019.46.4.409

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.

Keyword

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

MeSH Terms

Clavicle
Cleidocranial Dysplasia*
Clinical Coding
Codon, Nonsense
Core Binding Factor Alpha 1 Subunit
Cranial Sutures
Exons
Female
Humans
Molecular Biology
Mothers
Osteogenesis
Sequence Deletion
Tooth
Tooth Eruption
Tooth, Supernumerary
Transcription Factors
Young Adult
Codon, Nonsense
Core Binding Factor Alpha 1 Subunit
Transcription Factors