Correction of Depressed Forehead With BoneSource in Cleidocranial Dysplasia

Kang, Nakheon; Kim, Sook Z.; Jung, Sung-No

doi:10.1097/scs.0b013e31819ba361

Cited by 6 publications

(5 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another unique feature of the patient with CCD in our study was a thickened skull bone. Compared with previous reports indicating that CCD patients with RUNX2 mutations usually had a decreased craniofacial bone mass [26][27][28], the patient with CCD in our study exhibited skull bone thickening. To a certain extent, this clinical feature seems to be consistent with our functional results, from which the mutation leads to increased expression of both RUNX2 mRNA and RUNX2 protein.…”

Section: Discussioncontrasting

confidence: 86%

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Pan

Meng

et al. 2023

European J Oral Sciences

View full text Add to dashboard Cite

Cleidocranial dysplasia (CCD) is a rare, autosomal dominant hereditary disorder characterized by skeletal malformations and dental abnormalities. The purpose of this study was to explore the functional role of a novel mutation in the pathogenesis of CCD. Genomic DNA was extracted from peripheral blood mononuclear cells collected from family members of a Chinese patient with CCD. An analysis of their RUNX Family Transcription Factor 2 (RUNX2) gene sequences was performed by PCR amplification and Sanger sequencing. The function of the mutant RUNX2 was studied by bioinformatics, real‐time PCR, western blotting, and subcellular localization analysis. Sanger sequencing identified a novel single‐base deletion (NM_001024630.4:c.132delG;NP_001019801.3: Val45Trpfs*99) in the RUNX2 gene present in the Chinese patient with CCD. In vitro, functional studies showed altered protein localization and increased expression of mutant RUNX2 mRNA and mutant Runt‐related transcription factor 2 (RUNX2). Luciferase reporter assay demonstrated that the novel RUNX2 mutations significantly increased the transactivation activity of RUNX2 on the osteocalcin gene promoter. In conclusion, we identified a patient with sporadic CCD carrying a novel deletion/frameshift mutation of the RUNX2 gene and performed screening and functional analyses to determine the cause of the CCD phenotype. This study provides new insights into the pathogenesis of CCD.3

show abstract

Section: Discussioncontrasting

confidence: 86%

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Pan

Meng

et al. 2023

European J Oral Sciences

View full text Add to dashboard Cite

show abstract

“…Madeira et al ., reported the surgical and orthognathic care of a 21-year-old female CCD patient. 31 They revealed favorable outcomes when addressing class III skeletal and dental malocclusion. 31 In our study, clinical care began when the patient was 14 years-old.…”

Section: Discussionmentioning

confidence: 98%

“…31 They revealed favorable outcomes when addressing class III skeletal and dental malocclusion. 31 In our study, clinical care began when the patient was 14 years-old. Growth analysis demonstrates mild mandibular prognathism due to hypodivergent mandible and lack of posterior dental support.…”

Section: Discussionmentioning

confidence: 98%

Surgical Management and Evaluation of the Craniofacial Growth and Morphology in Cleidocranial Dysplasia

Greene¹,

Kau²,

Sittitavornwong

et al. 2018

Journal of Craniofacial Surgery

View full text Add to dashboard Cite

Cleidocranial dysplasia (CCD, MIM 119600) is a rare autosomal dominant disorder affecting bone, cartilage, craniofacial growth, and tooth formation leading to supernumerary teeth. Few reports delineate the genotype-phenotype correlations related to the variations in craniofacial morphology and patterning of the dentition and the complexity of treating patient's malocclusion. Successful management of the craniofacial deformities in patients with CCD requires a multidisciplinary team of healthcare specialists. Approximately 70% of patients are due to point mutations in RUNX2 and <20% due to copy number variations with the remainder unidentified. There is no literature to date, describing the orthognathic management of CCD patients with deletion in one of the RUNX2 alleles. The purpose of this study was to evaluate the craniofacial morphology and dental patterning in a 14-year-old Caucasian female with CCD resulting from a novel microdeletion of RUNX2 in 1 allele. The CCD patient with RUNX2 haploinsufficiency due to microdeletion had decreased craniofacial bone and ankyloses in the permanent dentition. An altered extraction protocol of supernumerary teeth was followed in this patient. Craniofacial growth and morphologic analysis demonstrated atypical skull shape, persistent metopic suture, and decreased mandibular size.

show abstract

“…Calvarial defects in the open anterior fontanelle, sagittal suture, and metopic suture have been successfully corrected by cranioplasty using bone cement 34 . Midface deficiency can be corrected by orthognathic surgery after growth is complete 35, 36.…”

Section: Treatmentmentioning

confidence: 99%

Craniofacial features of cleidocranial dysplasia

Pan

Tseng

Lan

et al. 2017

Journal of Dental Sciences

View full text Add to dashboard Cite

Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD.

show abstract

Correction of Depressed Forehead With BoneSource in Cleidocranial Dysplasia

Cited by 6 publications

References 5 publications

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Surgical Management and Evaluation of the Craniofacial Growth and Morphology in Cleidocranial Dysplasia

Craniofacial features of cleidocranial dysplasia

Contact Info

Product

Resources

About