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Cleidocranial Dysplasia

Worawan Kunotai, Panjit Ananpornruedee, Mark Lubinsky, Apitchaya Pruksametanan, Piranit Nik Kantaputra
A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively...
October 5, 2016: American Journal of Medical Genetics. Part A
Xiangyu Sun, Xiaozhe Wang, Chenying Zhang, Yang Liu, Xiang Yang, Wenjuan Yan, Zhongning Liu, Yixiang Wang, Shuguo Zheng
RUNX2 is an important osteo-specific factor with crucial functions in bone formation and remodelling as well as resorption of teeth. Heterozygous mutation of RUNX2 can cause cleidocranial dysplasia (CCD), a systemic disease with extensive skeletal dysplasia and abnormality of tooth growth. In our study, dental follicle cells (DFCs) and periodontal ligament cells (PDLCs) were isolated, cultured and identified from one patient with CCD and compared with normal controls. This CCD patient was confirmed to have a heterozygous frameshift mutation of RUNX2 (c...
August 10, 2016: Mutagenesis
Surasak Puvabanditsin, Melissa February, Julia Mayne, Jennifer McConnell, Rajeev Mehta
OBJECTIVE:   The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion. DESIGN:   A PubMed search using "cleidocranial dysplasia syndrome (CCD)" or "6p microdeletion" was performed. Articles with information relevant to our case were obtained for review. A new case of cleidocranial dysplasia syndrome is presented to describe and discuss clinical manifestations, pathogenesis, clinical progression of cleidocranial dysplasia syndrome, and management...
August 8, 2016: Cleft Palate-craniofacial Journal
A Montoya Filardi, M Guasp Vizcaíno, J Gómez Fernández-Montes, R Llorens Salvador
We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus' low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy...
July 23, 2016: Radiología
Zi-Jian Li, Jun-Yan Wang, Ming-Fei Gao, Da-Lei Wu, Xin Chang
Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition that affects ossification. The dental abnormalities associated with CCD present an obstacle to orthodontic treatment planning. Early diagnosis is crucial to provide the patient with different treatment modalities that will suit the particular patient. In the present case, combined surgical and orthodontic treatment were performed to guide multiple impacted teeth. A single nucleotide missense variation was identified in exon 3 of runt-related transcription factor 2 (RUNX2) in this patient...
August 2016: Experimental and Therapeutic Medicine
Anna Jaruga, Ewa Hordyjewska, Grzegorz Kandzierski, Przemko Tylzanowski
Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles...
June 6, 2016: Clinical Genetics
Mark Lubinsky, Piranit Nik Kantaputra
While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth...
October 2016: American Journal of Medical Genetics. Part A
Kusum Bharti, Mridula Goswami
Cleidocranial dysplasia (CCD) is a genetic disorder primarily causing dysplasia of bones and teeth with autosomal dominant inheritance pattern. Affected individuals presented with several skeletal and dental abnormalities mainly hypoplasia of clavicles, open fontanelles, short stature, retention of primary teeth, supernumerary teeth, delayed eruption of permanent teeth, multiple impacted permanent teeth etc. The present series of two cases illustrates the clinical and radiological features of pediatric patients with cleidocranial dysplasia...
May 2016: Intractable & Rare Diseases Research
Malavika Hebbar, Katta M Girisha, Anju Shukla
Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD.
2016: BMJ Case Reports
Michaël Chopin, Simon P Preston, Aaron T L Lun, Julie Tellier, Gordon K Smyth, Marc Pellegrini, Gabrielle T Belz, Lynn M Corcoran, Jane E Visvader, Li Wu, Stephen L Nutt
Plasmacytoid dendritic cells (pDCs) represent a unique immune cell type that responds to viral nucleic acids through the rapid production of type I interferons. Within the hematopoietic system, the transcription factor RUNX2 is exclusively expressed in pDCs and is required for their peripheral homeostasis. Here, we show that RUNX2 plays an essential role in promoting pDC localization and function. RUNX2 is required for the appropriate expression of the integrin-mediated adhesion machinery, as well as for the down-modulation of the chemokine receptor CXCR4, which allows pDC egress into the circulation...
April 13, 2016: Cell Reports
Mitzi J Palazzolo, Shawneen M Gonzalez
No abstract text is available yet for this article.
February 2016: Texas Dental Journal
X Z Wang, X Y Sun, C Y Zhang, X Yang, W J Yan, L H Ge, S G Zheng
Cleidocranial dysplasia (CCD), a skeletal disorder characterized by delayed permanent tooth eruption and other dental abnormalities, is caused by heterozygous RUNX2 mutations. As an osteoblast-specific transcription factor, RUNX2 plays a role in bone remodeling, tooth formation and tooth eruption. To investigate the crosstalk between RUNX2 and 1α,25-dihydroxyvitamin D3 (1α,25-(OH)2D3) in human dental follicle cells (hDFCs) during osteoclast formation, we established a co-culture system of hDFCs from CCD patient and healthy donors with peripheral blood mononuclear cells (PBMCs)...
2016: Scientific Reports
Kaan Gunduz, Hakan Avsever, Kaan Orhan, Gözde Canitezer, Aydan Acikgoz, Ulas Oz, Muhammet Midilli
AIM: The occurrence of multiple supernumerary teeth is rare and often found in association with syndromes such as cleidocranial dysplasia, Gardner's syndrome or cleft lip and palate. Few examples of non-syndromal multiple supernumerary teeth have been reported. The aim of this multi-centre study was to investigate the prevalence of supernumerary premolar teeth in non-syndromic patients and to investigate the association between the presence of supernumerary premolar teeth and malocclusion type in a Turkish population...
November 2015: Australian Orthodontic Journal
Gatha Thacker, Yogesh Kumar, Mohd Parvez Khan, Nidhi Shukla, Isha Kapoor, Jitendra Kumar Kanaujiya, Savita Lochab, Shakil Ahmed, Sabyasachi Sanyal, Naibedya Chattopadhyay, Arun Kumar Trivedi
Osteogenic transcription factor Runx2 is essential for osteoblast differentiation. The activity of Runx2 is tightly regulated at transcriptional as well as post-translational level. However, regulation of Runx2 stability by ubiquitin mediated proteasomal degradation by E3 ubiquitin ligases is little-known. Here, for the first time we demonstrate that Skp2, an SCF family E3 ubiquitin ligase negatively targets Runx2 by promoting its polyubiquitination and proteasome dependent degradation. Co-immunoprecipitation studies revealed that Skp2 physically interacts with Runx2 both in a heterologous as well as physiologically relevant system...
April 2016: Biochimica et Biophysica Acta
Michele Callea, Emanuele Bellacchio, Fabiana Fattori, Enrico Bertini, Francesco Callea, Francisco Cammarata-Scalisi
No abstract text is available yet for this article.
September 2016: Leukemia & Lymphoma
Takeshi Takarada, Ryota Nakazato, Azusa Tsuchikane, Koichi Fujikawa, Takashi Iezaki, Yukio Yoneda, Eiichi Hinoi
Runt-related transcription factor 2 (Runx2) is an essential transcriptional regulator of osteoblast differentiation and its haploinsufficiency leads to cleidocranial dysplasia because of a defect in osteoblast differentiation during bone formation through intramembranous ossification. The cellular origin and essential period for Runx2 function during osteoblast differentiation in intramembranous ossification remain poorly understood. Paired related homeobox 1 (Prx1) is expressed in craniofacial mesenchyme, and Runx2 deficiency in cells of the Prx1 lineage (in mice referred to here as Runx2prx1 (-/-)) resulted in defective intramembranous ossification...
January 15, 2016: Development
Anastasia Mitsea, Emanouel Vardas, Angeliki Papachatzopoulou, Georgios Kalfountzos, Minas Leventis, Kostas Tsiklakis
BACKGROUND: To investigate the frequency of non-syndromic distomolars in a Greek population sample. MATERIAL AND METHODS: The study population of this retrospective study consisted of 859 Orthopantomograms (OPGs) of 425 male and 434 female patients, attended the Department of Oral Diagnosis and Radiology, Dental School of Athens seeking for treatment. The OPGs were taken as a part of the patients treatment planning. Patients' mean age was 33.57 years. Exclusion criteria from this study was cleft lip ± palate and diseases associated with systemic conditions and syndromes (such as cleidocranial dysplasia and Gardner syndrome)...
December 2015: Journal of Clinical and Experimental Dentistry
Chaky Lee, Hee-Sup Jung, Jin-A Baek, Dae Ho Leem, Seung-O Ko
Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutation of core-binding factor A1 (CBFA1) based on gene analysis, and illustrates successful oral reconstruction with fixed prosthesis and dental implant after the extraction of multiple teeth...
December 2015: Maxillofacial Plastic and Reconstructive Surgery
Parul Singhal, Anita Singhal, Cheranjeevi Jayam, Anila Bandlapalli
Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, presents with a wide range of variability. Dentists are often the first to encounter patients with CCD, some of whom do not show typical manifestations. Since it has similar features to other pathologies, CCD is misdiagnosed as other conditions. A 10-year-old boy suffering from CCD was misdiagnosed as having rickets and was referred for non-eruption of a few permanent teeth along with an unaesthetic facial appearance...
2015: BMJ Case Reports
Sachiko Yamasaki, Atsuko Hamada, Eri Akagi, Hirotaka Nakatao, Manami Ohtaka, Ken Nishimura, Mahito Nakanishi, Shigeaki Toratani, Tetsuji Okamoto
Human pluripotent stem cells hold great promise for their practical and scientific potentials. To improve understanding of self-renewal and differentiation, we previously reported a defined serum-free medium hESF9 could generate and maintain human induced pluripotent stem cells (iPSCs) in serum- and feeder-free culture conditions using retroviral vectors. To avoid the unpredictable side effects associated with retrovirus integration, we report here the successful generation of hiPSCs from dental pulp cells with a non-integrating replication-defective and persistent Sendai virus (SeVdp) vector expressing four key reprogramming genes...
February 2016: In Vitro Cellular & Developmental Biology. Animal
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