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dentinogenesis imperfecta

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https://read.qxmd.com/read/30886339/genotype-phenotype-correlation-study-in-364-osteogenesis-imperfecta-italian-patients
#1
Margherita Maioli, Maria Gnoli, Manila Boarini, Morena Tremosini, Anna Zambrano, Elena Pedrini, Marina Mordenti, Serena Corsini, Patrizia D'Eufemia, Paolo Versacci, Mauro Celli, Luca Sangiorgi
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI types I-IV was evaluated. The study population was composed of 262 OI type I, 24 type II, 39 type III, and 39 type IV patients. Three hundred and nine subjects had a type I collagen affecting function mutations (230 in α1(I) and 79 in α2(I)); no disease-causing changes were noticed in 55 patients...
March 18, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30868445/challenges-of-delivery-of-dental-care-and-dental-pathologies-in-children-and-young-people-with-osteogenesis-imperfecta
#2
R Clark, C P Burren, R John
BACKGROUND: Osteogenesis imperfecta (OI) is the most common inherited disorder of bone fragility in children, increasing fracture risk 100-fold and can feature dental and facial bone involvement causing additional morbidities. AIM: To assess the utilisation of tertiary dental services by children and young people with OI attending a supra-regional multi-disciplinary OI service and review of the pathology identified and interventions undertaken. DESIGN: Case notes review of the current caseload of children and young people (0-18 years) with OI at a large regional OI specialist centre (n = 92)...
March 13, 2019: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://read.qxmd.com/read/30838560/establishment-of-an-immortalized-mouse-bmp2-knockout-dental-papilla-mesenchymal-cell-line
#3
Wen'an Xu, Shuo Chen
Bone morphogenetic protein 2 (Bmp2) is essential for dentin formation. Bmp2 cKO mice exhibited similar phenotype to dentinogenesis imperfecta (DGI), showing dental pulp exposure, hypomineralized dentin, and delayed odontoblast differentiation. As it is relatively difficult to obtain primary Bmp2 cKO dental papilla mesenchymal cells and to maintain a long-term culture of these primary cells, availability of immortalized deleted Bmp2 dental papilla mesenchymal cells is critical for studying the underlying mechanism of Bmp2 signal in odontogenesis...
2019: Methods in Molecular Biology
https://read.qxmd.com/read/30816068/dentinogenesis-and-tooth-alveolar-bone-complex-defects-in-i-bmp9-gdf2-i-knockout-mice
#4
Xia Huang, Feilong Wang, Chen Zhao, Sheng Yang, Qianyu Cheng, Yingying Tang, Fugui Zhang, Yan Zhang, Wenping Luo, Chao Wang, Pengfei Zhou, Stephanie Kim, Guowei Zuo, Ning Hu, Ruidong Li, T-C He, Hongmei Zhang
Tooth development is regulated by sequential and reciprocal epithelium-mesenchymal interactions and their related molecular signaling pathways, such as bone morphogenetic proteins (BMPs). Among the 14 types of BMPs, BMP9 (as known as, GDF2) is one of the most potent BMPs to induce osteogenic differentiation of mesenchymal stem cells (MSCs). The purpose of this study was to examine potential roles of BMP9 signaling in tooth development. Firstly, we detected the expression pattern of BMP9 in tooth germ during postnatal tooth development, and found that BMP9 was widely expressed in odontoblasts, ameloblasts, dental pulp cells and osteoblasts in alveolar bones...
February 28, 2019: Stem Cells and Development
https://read.qxmd.com/read/30758072/caries-prevalence-and-experience-in-individuals-with-osteogenesis-imperfecta-a-cross-sectional-multicenter-study
#5
Mang Shin Ma, Mohammadamin Najirad, Doaa Taqi, Jean-Marc Retrouvey, Faleh Tamimi, Didem Dagdeviren, Francis H Glorieux, Brendan Lee, Vernon Reid Sutton, Frank Rauch, Shahrokh Esfandiari
OBJECTIVE: Dentinogenesis Imperfecta (DI) forms a group of dental abnormalities frequently found associated with Osteogenesis Imperfecta (OI), a hereditary disease characterized by bone fragility. The objectives of this study were to quantify the dental caries prevalence and experience among different OI-types in the sample population and quantify how much these values change for the subset with DI. METHODS: To determine which clinical characteristics were associated with increased Caries Prevalence and Experience (CPE) in patients with OI, the adjusted DFT scores were used to account for frequent hypodontia, impacted teeth and retained teeth in OI population...
February 13, 2019: Special Care in Dentistry
https://read.qxmd.com/read/30684648/aortic-aneurysm-dissection-and-osteogenesis-imperfecta-four-new-families-and-review-of-the-literature
#6
Meena Balasubramanian, Aline Verschueren, Simon Kleevens, Ilse Luyckx, Melanie Perik, Schaida Schirwani, Geert Mortier, Hiroko Morisaki, Inez Rodrigus, Lut Van Laer, Aline Verstraeten, Bart Loeys
Osteogenesis imperfecta (OI) is the commonest form of heritable bone fragility. It is mainly characterized by fractures, hearing loss and dentinogenesis imperfecta. OI patients are at increased risk of cardiovascular disease of variable severity. Aortic aneurysm/dissection is one of the rarer but potentially serious cardiovascular complications of OI. So far, only six patients with aortic dissection and OI have been reported. As such, present OI diagnostic guidelines do not recommend systematic screening of patients for aortopathy...
January 23, 2019: Bone
https://read.qxmd.com/read/30614853/genotype-phenotype-relationship-in-a-large-cohort-of-osteogenesis-imperfecta-patients-with-col1a1-mutations-revealed-by-a-new-scoring-system
#7
Lu-Jiao Li, Fang Lyu, Yu-Wen Song, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
BACKGROUND: Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI. METHODS: A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study...
January 3, 2019: Chinese Medical Journal
https://read.qxmd.com/read/30593885/oro-dental-and-cranio-facial-characteristics-of-osteogenesis-imperfecta-type-v
#8
Jean-Marc Retrouvey, Doaa Taqi, Faleh Tamimi, Didem Dagdeviren, Francis H Glorieux, Brendan Lee, Renna Hazboun, Deborah Krakow, V Reid Sutton
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Fourteen individuals with OI type V (age 3-50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range 1-9)...
December 26, 2018: European Journal of Medical Genetics
https://read.qxmd.com/read/30567448/indirect-adhesive-rehabilitation-by-cementation-under-pressure-of-a-case-of-dentinogenesis-imperfecta-type-ii-follow-up-after-13-years
#9
V Campanella, V Di Taranto, A Libonati, G Marzo, R Nardi, V Angotti, G Gallusi
AIM: Dentinogenesis imperfecta (DI) is an autosomal dominant genetic disease that affects both deciduous and permanent teeth, with an incidence of 1 out of 6,000 to 1 out of 8,000. Teeth affected with DI type II present bulbous crowns, short and constricted roots, marked cervical constriction, translucent enamel and amber dentin. Also, they present a partial or total obliteration of pulp space, due to continuous dentin production. SEM analysis has shown an undulated dentin-enamel junction (DEJ) with irregularities and locally wide spaces between the two structures instead of a strict junction and a regular linear surface...
December 2018: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://read.qxmd.com/read/30544680/phosphophoryn-and-dentin-sialoprotein-effects-on-dental-pulp-cell-migration-proliferation-and-differentiation
#10
Shu-Feng Chuang, Yu-Hsuan Chen, Peter Ma, Helena H Ritchie
Phosphophoryn (PP) and dentin sialoprotein (DSP) are two of the most abundant dentin matrix non-collagenous proteins, and are derived from dentin sialoprotein-phosphophoryn (DSP-PP) mRNA. Mutations in the DSP-PP gene are linked to dentinogenesis imperfecta II and III. Previously, we reported transient DSP-PP expression in preameloblast cells first, followed by co-expression in preameloblasts and young odontoblasts, and finally sustained expression in odontoblasts. This phenomenon raised the possibility that DSP/PP proteins secreted by preameloblasts might promote dental pulp cell migration toward the dental pulp border and promote dental pulp cell differentiation...
December 10, 2018: Dentistry Journal
https://read.qxmd.com/read/30453633/parental-perception-of-children-affected-by-amelogenesis-imperfecta-ai-and-dentinogenesis-imperfecta-di-a-qualitative-study
#11
Areej Alqadi, Anne C O'Connell
This qualitative study was conducted to explore parental attitudes and values regarding aesthetics and treatment needs of children in primary dentition affected by AI and DI. A purposive sample of parents of young children attended two focus groups: mothers (n = 7) and fathers (n = 6). A topic guide with open-ended questions was formulated and standardised photographs showing primary teeth affected by varying severity of AI/DI and photographs of different aesthetic treatments were utilised to stimulate discussion...
November 17, 2018: Dentistry Journal
https://read.qxmd.com/read/30408480/novel-mutations-in-bmp1-induce-a-rare-type-of-osteogenesis-imperfecta
#12
Xiao-Jie Xu, Fang Lv, Yu-Wen Song, Lu-Jiao Li, Asan, Xiu-Xiu Wei, Xiu-Li Zhao, Yan Jiang, Ou Wang, Xiao-Ping Xing, Wei-Bo Xia, Mei Li
BACKGROUND: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by low bone mass and recurrent fractures. OI patients of autosomal recessive inheritance are extremely rare, of which OI type XIII is attributable to mutation in BMP1 gene. CASE REPORT: Here, we detect the pathogenic mutations and analyze their relation to the phenotypes in a Chinese family with OI using next-generation sequencing (NGS) and Sanger sequencing. We also evaluate the efficacy of alendronate treatment in the patient with OI type XIII...
November 5, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/30355314/the-dental-perspective-on-osteogenesis-imperfecta-in-a-danish-adult-population
#13
Kirstine Juhl Thuesen, Hans Gjørup, Jannie Dahl Hald, Malene Schmidt, Torben Harsløf, Bente Langdahl, Dorte Haubek
BACKGROUND: To report on dental characteristics and treatment load in Danish adult patients with osteogenesis imperfecta (OI). METHODS: Oral examination of 73 patients with OI was performed and OI type I, III, and IV were represented by 75.3%, 8.2%, and 16.4%, respectively. Patients were diagnosed as having dentinogenesis imperfecta (DI) if they had clinical and radiological signs of DI. In the data analysis, mild OI (type I) was compared to moderate-severe OI (type III and IV)...
October 24, 2018: BMC Oral Health
https://read.qxmd.com/read/30289614/dental-and-craniofacial-characteristics-caused-by-the-p-ser40leu-mutation-in-ifitm5
#14
Didem Dagdeviren, Faleh Tamimi, Brendan Lee, Reid Sutton, Frank Rauch, Jean-Marc Retrouvey
Severe forms of osteogenesis imperfecta (OI) are usually caused by mutations in genes that code for collagen Type I and frequently are associated with craniofacial abnormalities. However, the dental and craniofacial characteristics of OI caused by the p.Ser40Leu mutation in the IFITM5 gene have not been reported. We investigated a 15-year-old girl with severe OI caused by this mutation. She had marked deformations of extremity long bones. There were no clinical or radiological signs of dentinogenesis imperfecta, but one tooth was missing and several teeth were impacted...
October 5, 2018: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30249487/prevalence-of-dental-anomalies-in-french-orthodontic-patients-a-retrospective-study
#15
C Baron, M Houchmand-Cuny, B Enkel, S Lopez-Cazaux
OBJECTIVES: To investigate the prevalence and gender distributions of dental anomalies in French orthodontic patients. MATERIAL AND METHODS: A retrospective review of the dental files of orthodontic patients was conducted to investigate the frequencies of dental anomalies. Pretreatment intraoral photographs and panoramic radiographs were analyzed. The occurrence rates of various dental anomalies (as determined by the numbers, shapes, structures, exfoliations, and eruptions of teeth) were calculated as percentages and differences in gender distribution using Chi2 and Fisher tests...
October 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/30174330/whole-exome-sequencing-identifies-an-ambn-missense-mutation-causing-severe-autosomal-dominant-amelogenesis-imperfecta-and-dentin-disorders
#16
Ting Lu, Meiyi Li, Xiangmin Xu, Jun Xiong, Cheng Huang, Xuelian Zhang, Aiqin Hu, Ling Peng, Decheng Cai, Leitao Zhang, Buling Wu, Fu Xiong
Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth...
September 3, 2018: International Journal of Oral Science
https://read.qxmd.com/read/30143849/osteogenesis-imperfecta-and-the-teeth-eyes-and-ears-a-study-of-non-skeletal-phenotypes-in-adults
#17
J D Hald, L Folkestad, C Z Swan, J Wanscher, M Schmidt, H Gjørup, D Haubek, C-H Leonhard, D A Larsen, J Ø Hjortdal, T Harsløf, M Duno, A M Lund, J-E B Jensen, K Brixen, B Langdahl
Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in adults with OI that clinicians should be aware of when caring for patients with OI. INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen type 1 throughout the human body...
December 2018: Osteoporosis International
https://read.qxmd.com/read/30134932/dentinogenesis-imperfecta-type-ii-in-swedish-children-and-adolescents
#18
K Andersson, B Malmgren, E Åström, G Dahllöf
BACKGROUND: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromic form. The differential diagnosis between types I and II is often challenging. Thus, the present cross-sectional study had two aims: to (i) investigate the prevalence and incidence of DGI type II among Swedish children and adolescents and (ii) search out undiagnosed cases of DGI type I by documenting the prevalence of clinical symptoms of OI in these individuals...
August 22, 2018: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/30098245/-analysis-of-dspp-gene-mutation-in-a-chinese-pedigree-affected-with-hereditary-dentinogenesis-imperfecta
#19
Aiqin Hu, Xiaocong Li, Danna Chen, Ting Lu, Jin Huang, Xiangmin Xu, Dong Chen, Fu Xiong
OBJECTIVE: To analyze the clinical phenotype of a Chinese pedigree affected with hereditary dentinogenesis imperfecta and mutation of dentin sialophosphoprotein (DSPP) gene. METHODS: Affected members underwent intraoral photography, dental film and panoramic radiography. Genomic DNA was extracted from peripheral venous blood samples. Coding regions of the DSPP gene were subjected to PCR amplification and Sanger sequencing. Functional effect of the mutation was predicted with SIFT and PolyPhen-2...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/30063094/cole-carpenter-syndrome-in-a-patient-from-thailand
#20
Thantrira Porntaveetus, Thanakorn Theerapanon, Chalurmpon Srichomthong, Vorasuk Shotelersuk
Cole-Carpenter syndrome (CCS), commonly classified as a rare type of osteogenesis imperfecta, is a disorder with severe bone fragility, craniosynostosis, and distinct facial features. Recently, the heterozygous missense mutation, c.1178A>G, p.Tyr393Cys, in exon 9 of P4HB which encodes protein disulfide isomerase, has been found in three Caucasian patients with CCS. Ethnic background is known to affect clinical manifestations, especially facial features of dysmorphic syndromes. Here, we describe the first Asian CCS patient possessing the recurrent mutation in P4HB...
August 2018: American Journal of Medical Genetics. Part A
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