ABSTRACT
The purpose of this study was to examine the prevalence of developmental anomalies of permanent lateral incisor and eruption disturbances and analyze the association between two components. Panoramic radiographs of 3984 patients (aged 5 to 13 years) who visited the Department of Pediatric Dentistry of Seoul National University Dental Hospital between November 2016 and October 2017 were screened.The prevalence of developmental anomalies of permanent lateral incisors was 10.2%. The most common developmental anomalies were congenitally missing teeth(66.1%), followed by peg lateralis(33.5%). The prevalence of eruption disturbances was 16.5%. Among the patient with developmental anomalies of permanent lateral incisors, associated eruption disturbances were appeared on 31.1% of patients. Peg lateralis(p It is important for patients with developmental anomalies of lateral incisors to detect associated eruption disturbance early through regular checkup. Diagnosis and treatment plan in view of such relationships is important in order to treat appropriately at the optimal time.
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.