keyword
MENU ▼
Read by QxMD icon Read
search

Cleidocranial Dysplasia

keyword
https://www.readbyqxmd.com/read/28898321/-cleidocranial-dysplasia-a-case-report
#1
Olga Medina, Nelson Muñoz, Carlos Moneriz
INTRODUCTION: Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. OBJECTIVE: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. CASE REPORT: A 3 year old patient, who was clinically diagnosed with CCD since birth...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28889021/maxillary-sinuses-and-midface-in-patients-with-cleidocranial-dysostosis
#2
Tomasz Kulczyk, Agnieszka Przystańska, Artur Rewekant, Renata Turska-Malińska, Agata Czajka-Jakubowska
The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Files of four children with cleidocranial dysplasia were investigated.Volume of every maxillary sinus as well as two dimensional measurements of distances between particular points of interest located on surface of maxilla were calculated from reconstructed CBCT examination...
September 6, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28878609/novel-mutation-of-the-runx2-gene-in-patients-with-cleidocranial-dysplasia
#3
Ewa Hordyjewska, Anna Jaruga, Grzegorz Kandzierski, Przemko Tylzanowski
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in RUNX2 identified in 3 affected members of a Polish family with CCD. The localization and transcriptional transactivation studies show that the mutated form of the protein has altered the subcellular localization and significantly decreased transactivation properties, respectively...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28738062/analysis-of-novel-runx2-mutations-in-chinese-patients-with-cleidocranial-dysplasia
#4
Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c...
2017: PloS One
https://www.readbyqxmd.com/read/28703881/a-novel-runx2-mutation-in-exon-8-g462x-in-a-patient-with-cleidocranial-dysplasia
#5
Yu-Jin Jung, Han-Sol Bae, Hyun-Mo Ryoo, Seung-Hak Baek
To identify a novel mutation of Runx2 gene in Cleidocranial Dysplasia (CCD) patients and to characterize the functional consequences of this mutation. The subjects consisted of 12 Korean CCD patients. After oral epithelial cells were collected using a mouthwash technique, genomic DNA was extracted. Screening for Runx2 mutation was performed using direct sequencing of polymerase chain reaction (PCR) products for exons 1-8. Restriction fragment length polymorphism (RFLP) analysis was performed to confirm the novel mutation...
July 13, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28686577/mtor-raptor-signaling-is-critical-for-skeletogenesis-in-mice-through-the-regulation-of-runx2-expression
#6
Qinggang Dai, Zhan Xu, Xuhui Ma, Ningning Niu, Siru Zhou, Furong Xie, Lingyong Jiang, Jun Wang, Weiguo Zou
The mammalian target of rapamycin (mTOR)/regulatory-associated protein of mTOR (Raptor) pathway transmits and integrates different signals including growth factors, nutrients, and energy metabolism. Nearly all these signals have been found to play roles in skeletal biology. However, the contribution of mTOR/Raptor to osteoblast biology in vivo remains to be elucidated as the conclusions of recent studies are controversial. Here we report that mice with a deficiency of either mTOR or Raptor in preosteoblasts exhibited clavicular hypoplasia and delayed fontanelle fusion, similar to those found in human patients with cleidocranial dysplasia (CCD) haploinsufficient for the transcription factor runt-related transcription factor 2 (Runx2) or those identified in Runx2(+/-) mice...
July 7, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28581440/ubiquitin-ligase-rnf146-coordinates-bone-dynamics-and-energy-metabolism
#7
Yoshinori Matsumoto, Jose La Rose, Melissa Lim, Hibret A Adissu, Napoleon Law, Xiaohong Mao, Feng Cong, Paula Mera, Gerard Karsenty, David Goltzman, Adele Changoor, Lucia Zhang, Megan Stajkowski, Marc D Grynpas, Carsten Bergmann, Robert Rottapel
Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnormal bone development that is mainly due to defective intramembranous bone formation by osteoblasts. Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. Loss of RNF146 stabilized its substrate AXIN1, leading to impairment of WNT3a-induced β-catenin activation and reduced Fgf18 expression in osteoblasts. We show that FGF18 induces transcriptional coactivator with PDZ-binding motif (TAZ) expression, which is required for osteoblast proliferation and differentiation through transcriptional enhancer associate domain (TEAD) and runt-related transcription factor 2 (RUNX2) transcription factors, respectively...
June 30, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28578077/oral-rehabilitation-with-implant-supported-fixed-dental-prostheses-of-a-patient-with-cleidocranial-dysplasia
#8
Fethi Atil, Ahmet Culhaoglu, Ismail Doruk Kocyigit, Zahit Adisen, Melda Misirlioglu, Burak Yilmaz
This clinical report describes the oral rehabilitation with implant-supported fixed dental prostheses in the maxilla and mandible of a patient with cleidocranial dysplasia. Cone-beam computed tomography and a tilted implant protocol in the mandible helped to establish a conservative approach for bone preservation, prevent surgical complications, enable proper implant positioning to avoid anatomic structures, and support the fixed dental prostheses.
May 31, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28505335/functional-analysis-of-novel-runx2-mutations-in-cleidocranial-dysplasia
#9
Li Zeng, Jiahui Wei, Dong Han, Haochen Liu, Yang Liu, Na Zhao, Shichen Sun, Yixiang Wang, Hailan Feng
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by mutation of runt-related transcription factor 2 (RUNX2) gene. The purpose of this study was to explore novel RUNX2 mutations in seven individuals with CCD and investigate the function of the mutant RUNX2 proteins. DNA samples were prepared from the peripheral blood of the CCD individuals, and then subjected to DNA sequencing. Conservation and secondary structure analysis were performed based on RUNX2 sequencing results. pEGFP-C1 plasmids containing GFP-tagged wild-type RUNX2 and three novel RUNX2 mutations expression cassettes were constructed, and then transfected into HEK293T cells...
July 1, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28413596/non-syndromic-multiple-supernumerary-premolars-clinicoradiographic-report-of-five-cases
#10
Renu Tanwar, Vipul Jaitly, Aadya Sharma, Rashmi Heralgi, Munish Ghangas, Ankur Bhagat
Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner's syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28188365/quantitative-anatomy-of-the-growing-clavicle-in-the-human-fetus-ct-digital-image-analysis-and-statistical-study
#11
Marcin Wiśniewski, Mariusz Baumgart, Magdalena Grzonkowska, Bogdan Małkowski, Piotr Flisiński, Małgorzata Dombek, Michał Szpinda
PURPOSES: Knowledge of dimensions of fetal long bones is useful in both the assessment of fetal growth and early detection of inherited defects. Measurements of the fetal clavicle may facilitate detection of numerous defects, e.g., cleidocranial dysplasia, Holt-Oram syndrome, Goltz syndrome, and Melnick-Needles syndrome. METHODS: Using the methods of CT, digital image analysis, and statistics, the size of the growing clavicle in 42 spontaneously aborted human fetuses (21 males and 21 females) at ages of 18-30 weeks was studied...
February 10, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28173761/a-novel-complex-runx2-gene-mutation-causes-cleidocranial-dysplasia
#12
Wen'an Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong, Buling Wu
BACKGROUND: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. METHODS: Genomic DNA extracted from peripheral venous blood was taken from the proband, her parents and 3 siblings, and 150 normal controls. Analysis of their respective RUNX2 gene sequences was performed by PCR amplification and Sanger sequencing...
February 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28091408/novel-mutation-of-cleidocranial-dysplasia-related-frameshift-runt-related-transcription-factor-2-in-a-sporadic-chinese-case
#13
Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD...
January 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#14
REVIEW
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28052439/an-hdac-inhibitor-entinostat-ms-275-partially-prevents-delayed-cranial-suture-closure-in-heterozygous-runx2-null-mice
#15
Han-Sol Bae, Won-Joon Yoon, Young-Dan Cho, Rabia Islam, Hye-Rim Shin, Bong-Soo Kim, Jin-Muk Lim, Min-Seok Seo, Seo-Ae Cho, Kang-Young Choi, Seung-Hak Baek, Hong-Gee Kim, Kyung-Mi Woo, Jeong-Hwa Baek, Yun-Sil Lee, Hyun-Mo Ryoo
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder caused by mutations in RUNX2, coding a key transcription factor of early osteogenesis. CCD patients suffer from developmental defects in cranial bones. Despite numerous investigations and clinical approaches, no therapeutic strategy has been suggested to prevent CCD. Here, we show that fetal administration of Entinostat/MS-275, a class I histone deacetylase (HDAC)-specific inhibitor, partially prevents delayed closure of cranial sutures in Runx2(+/-) mice strain of C57BL/6J by two mechanisms: 1) posttranslational acetylation of Runx2 protein, which stabilized the protein and activated its transcriptional activity; and 2) epigenetic regulation of Runx2 and other bone marker genes...
May 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28027977/cleidocranial-dysplasia-clinical-endocrinologic-and-molecular-findings-in-15-patients-from-11-families
#16
Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem S Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Z Oya Uyguner
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27706911/making-extra-teeth-lessons-from-a-trps1-mutation
#17
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...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27509906/runx2-mutation-impairs-bone-remodelling-of-dental-follicle-cells-and-periodontal-ligament-cells-in-patients-with-cleidocranial-dysplasia
#18
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...
November 2016: Mutagenesis
https://www.readbyqxmd.com/read/27500518/cleidocranial-dysplasia-with-6p21-1-p12-3-microdeletion-a-case-report-and-literature-review
#19
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
https://www.readbyqxmd.com/read/27460680/low-dose-computed-tomography-to-diagnose-fetal-bone-dysplasias
#20
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...
November 2016: Radiología
keyword
keyword
62779
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"