AI Article Synopsis
Article Abstract
Objective: To study gene mutation in Chinese patients with cleidocranial dysplasia.
Methods: A three generation family with the clinical diagnosis of cleidocranial dysplasia was investigated in present study. Genomic DNA was extracted from peripheral blood samples of each of the family members. Direct sequencing of the PCR products of the coding region of CBFA1 gene was used to identify the mutations.
Results: In each patient of the family, a heterozygous missense mutation, cDNA 674 G > A (R225Q), was detected in CBFA1 exon 3. The mutation changed the sequence in runt domain of the protein.
Conclusions: Our findings indicate that mutation in CBFA1 is responsible for the tooth agenesis and other phenotypes of cleidocranial dysplasia in this Chinese family. The mutation detection could be applied in prenatal diagnosis for the family.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Accuracy and user experience of dental diagnosis of a patient with cleidocranial dysplasia using immersive virtual reality and cone-beam computed tomography multiplanar reconstructions.
Am J Orthod Dentofacial Orthop
January 2025
School of Dentistry, University of Michigan, Ann Arbor, Mich.
Introduction: Accuracy and user experience of dental diagnosis for a patient with cleidocranial dysplasia (CCD) using immersive virtual reality (VR) and cone-beam computed tomography multiplanar reconstruction methods were evaluated.
Methods: Dental students (n = 40) were randomly assigned to VR or MP groups. VR participants manipulated and visualized the rendered 3-dimensional model using VR hardware and software.
Exploring the complexities of cleidocranial dysplasia: Dental anomalies and treatment interventions.
Am J Orthod Dentofacial Orthop
December 2024
Department of Oral Medical Imaging, State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China. Electronic address:
Introduction: Cleidocranial dysplasia (CCD) is a genetic disorder characterized by distinctive oral manifestations, making dental anomalies a key diagnostic criterion and treatment focus.
Methods: We retrospectively enrolled 32 patients diagnosed with CCD with detailed dental records (19 males and 13 females; mean age, 20.5 years).
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
J Transl Med
December 2024
Department of Physiology, Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phenotypes is crucial for accurate diagnosis and management strategies. This systematic review aimed to comprehensively analyze the genotypic and phenotypic spectra of RUNX2 variants in CCD patients, assess their distribution across functional regions, and investigate genotype-phenotype correlations.
View Article and Find Full Text PDFA novel splice site mutation in Chinese associated with cleidocranial dysplasia.
Heliyon
November 2024
Department of Orthodontics, School of Stomatology, Beijing Stomatological Hospital, Capital Medical University, No.4 Tiantan Xili, Dong cheng District, Beijing, 100050, China.
Pathogenic genes in most patients with cleidocranial dysplasia have been confirmed to be runt-related transcription factor 2 (), which controls mutations in specific osteoblast transcription factors and affects skull ossification and suture adhesion. This study aimed to explore the role of mutations. Here, we report a rare case of a splice site mutation in a Chinese population with typical cleidocranial dysplasia symptoms, cranial suture insufficiency, clavicle dysplasia, and dental anomalies.
View Article and Find Full Text PDFCongenital Pseudoarthrosis of the Femur Managed with Masquelet Technique.
J Orthop Case Rep
October 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Jodhpur, Rajasthan - 342005, India.
Article Synopsis
- - Congenital pseudoarthrosis is a rare bone disorder primarily affecting the radius, ulna, tibia, and fibula, with a few cases reported in association with conditions like neurofibromatosis and fibrous dysplasia, while acquired cases often follow fractures or infections like tuberculosis.
- - A 3-year-old girl presented with pain and swelling in her right thigh, where an MRI indicated chronic osteomyelitis with non-united fracture, leading to abnormal mobility and cortical resorption.
- - The treatment involved surgical resection of the pseudoarthrosis followed by a two-stage masquelet procedure, which included bone grafting and plate fixation to support healing.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!