A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia
10.5933/JKAPD.2019.46.4.409
- Author:
Ji Won LEE
1
;
Jisoo SONG
;
Teo Jeon SHIN
;
Hong Keun HYUN
;
Young Jae KIM
;
Sang Hoon LEE
;
Jongbin KIM
;
Jung Wook KIM
Author Information
1. Department of Pediatric Dentistry, School of Dentistry, Seoul National University, Korea. pedoman@snu.ac.kr
- Publication Type:Original Article
- Keywords:
RUNX2;
Cleidocranial dysplasia;
Deletion mutation;
Frameshift;
Delayed eruption
- MeSH:
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
- From:
Journal of Korean Academy of Pediatric Dentistry
2019;46(4):409-415
- CountryRepublic of Korea
- Language:Korean
-
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.
