Dataset Information

Characterization of dental phenotype in patients with cleidocranial dysplasia using longitudinal data.

ABSTRACT:

Objective

To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data.

Materials and methods

Twelve unrelated Korean CCD patients were observed using a longitudinal series of radiographs and clinical photographs. Statistical analysis was performed on the dental phenotypic data.

Results

Although dysplasia of the clavicles, open fontanelle, and wormian bone were observed in all 12 patients, delayed fusion of the mandibular symphysis was found in four patients. One patient did not have a supernumerary tooth (ST). However, 62 STs were found in 11 patients (mean, 5.6 per patient; range of ST emergence, 5 years 6 months-14 years 8 months; developing position, occlusal to the permanent incisors, canines, and premolars and distal and apical to the permanent molars). The mandibular premolar region was the most frequent area of ST development (50.0%, P < .001). All 12 patients showed impacted permanent teeth (IPT), including one patient without ST (mean, 17.8 per patient). Impaction occurred most frequently in the mandibular premolar region and least frequently in the maxillary molar region (93.8% vs 39.6%, P < .01). The ratio of spontaneous eruption of IPT after removal of retained deciduous teeth and/or ST was highest for the maxillary and mandibular incisors (all 54.6%) and lowest for the mandibular canines and premolars (26.7% and 28.9%, respectively); however, the difference was not significant.

Conclusions

The emergence time and development position of ST and the root development of IPT should be considered to determine the timing for the removal of ST and forced eruption of IPT.

SUBMITTER: Ha SW

PROVIDER: S-EPMC8191924 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectivesCleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. To characterize detailed phenotypes and identify variants causing CCD in five unrelated patients and their family members.MethodologyClinical and radiographic examinations were performed. Genetic variants were identified by exome and Sanger sequencing, data were analyzed by bioinformatics tools.ResultsThree cases were sporadic and two were familial. Exome sequencing successfully detected the heterozygous pathogenic RUNX2 variants in all affected individuals. Three were novel, comprising a frameshift c.739delA (p.(Ser247Valfs*)) in exon 6 (Patient-1), a nonsense c.901C>T (p.(Gln301*)) in exon 7 (Patient-2 and affected mother), and a nonsense c.1081C>T (p.(Gln361*)) in exon 8 (Patient-3). Two previously reported variants were missense: the c.673C>T (p.(Arg225Trp)) (Patient-4) and c.674G>A (p.(Arg225Gln)) (Patient-5) in exon 5 within the Runt homology domain. Patient-1, Patient-2, and Patient-4 with permanent dentition had thirty, nineteen, and twenty unerupted teeth, respectively; whereas Patient-3 and Patient-5, with deciduous dentition, had normally developed teeth. All patients exhibited typical CCD features, but the following uncommon/unreported phenotypes were observed: left fourth ray brachymetatarsia (Patient-1), normal clavicles (Patient-2 and affected mother), phalangeal malformations (Patient-3), and normal primary dentition (Patient-3, Patient-5).ConclusionsThe study shows that exome sequencing is effective to detect mutation across ethnics. The two p.Arg225 variants confirm that the Runt homology domain is vital for RUNX2 function. Here, we report a new CCD feature, unilateral brachymetatarsia, and three novel truncating variants, expanding the phenotypic and genotypic spectra of RUNX2 , as well as show that the CCD patients can have normal deciduous teeth, but must be monitored for permanent teeth anomalies.