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dentinogenesis imperfecta

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https://www.readbyqxmd.com/read/30289614/dental-and-craniofacial-characteristics-caused-by-the-p-ser40leu-mutation-in-ifitm5
#1
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://www.readbyqxmd.com/read/30249487/prevalence-of-dental-anomalies-in-french-orthodontic-patients-a-retrospective-study
#2
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://www.readbyqxmd.com/read/30174330/whole-exome-sequencing-identifies-an-ambn-missense-mutation-causing-severe-autosomal-dominant-amelogenesis-imperfecta-and-dentin-disorders
#3
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://www.readbyqxmd.com/read/30143849/osteogenesis-imperfecta-and-the-teeth-eyes-and-ears-a-study-of-non-skeletal-phenotypes-in-adults
#4
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...
August 24, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/30134932/dentinogenesis-imperfecta-type-ii-in-swedish-children-and-adolescents
#5
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://www.readbyqxmd.com/read/30098245/-analysis-of-dspp-gene-mutation-in-a-chinese-pedigree-affected-with-hereditary-dentinogenesis-imperfecta
#6
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://www.readbyqxmd.com/read/30063094/cole-carpenter-syndrome-in-a-patient-from-thailand
#7
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
https://www.readbyqxmd.com/read/29964251/complete-overdenture-fabrication-for-a-12-year-old-child-with-dentinogenesis-imperfecta-type-2
#8
Sabrina Garces, Barry Shipman, Alexandre Barbosa, Robert M Newman, Paul Benjamin
Dentinogenesis imperfecta type 2 (DI-2), also known as hereditary opalescent dentin, is a rare, genetically linked condition that affects both primary and permanent teeth. Severe attrition requiring full-mouth rehabilitation is a common finding associated with DI-2. Dental rehabilitation options include a variety of invasive and noninvasive restorative techniques dictated by the age of the patient. Growth and development must be considered and may result in a restorative challenge for the dental practitioner, particularly when the patient in question is a child...
July 2018: General Dentistry
https://www.readbyqxmd.com/read/29940650/a-rare-case-diagnosed-as-dentin-dysplasia-type-ii
#9
Paula Perlea, Cristina Dragomir, Andreea Bodeanu, Anca Nicoleta Temelcea, Alexandru Andrei Iliescu
According to their phenotypic features, the hereditary dentin defects in humans are categorized in two major classes: dentinogenesis imperfecta and dentin dysplasia. At its turn, the dentin dysplasia is subdivided in dentin dysplasia type I and dentin dysplasia type II, a milder clinical manifestation of the condition. Here we report the clinical and radiographic findings of dentin dysplasia type II in two members of a family, a young adult female and her mother. Except a mild shade change of the incisal margins in upper central incisors and left upper canine of the daughter no abnormal occlusal wear or crown shape change of the teeth were disclosed in both patients...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29807018/genotype-phenotype-correlation-among-malaysian-patients-with-osteogenesis-imperfecta
#10
Nadiah Mohd Nawawi, Nalini M Selveindran, Rahmah Rasat, Yock Ping Chow, Zarina Abdul Latiff, Syed Zulkifli Syed Zakaria, Rahman Jamal, Nor Azian Abdul Murad, Bilkis Banu Abd Aziz
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. Nevertheless, new genes have been identified to be causally linked to OI. The clinical features between each OI groups share great similarities and it is sometimes difficult for clinicians to diagnose the disease accurately. Here, we identify the genetic mutations of OI patients from Malaysia and correlate the genetic mutations with the clinical features...
September 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#11
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29679229/compromised-alveolar-bone-cells-in-a-patient-with-dentinogenesis-imperfecta-caused-by-dspp-mutation
#12
Thantrira Porntaveetus, Nunthawan Nowwarote, Thanaphum Osathanon, Thanakorn Theerapanon, Prasit Pavasant, Lawan Boonprakong, Kittisak Sanon, Sirivimol Srisawasdi, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVES: Dentin sialophosphoprotein (DSPP) plays an important role in the mineralization of both dentin and bones. The Dspp null mice developed periodontal diseases. Patients with DSPP mutations have dentinogenesis imperfecta (DGI), but very little is known about their bone characteristics. This study aims to characterize alveolar bone cells of a DGI patient with DSPP mutation. MATERIALS AND METHODS: Pathogenic variants were identified by whole exome and sanger sequencing...
April 20, 2018: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29672573/transgenic-expression-of-dentin-phosphoprotein-dpp-partially-rescued-the-dentin-defects-of-dspp-null-mice
#13
Hua Zhang, Xiaohua Xie, Peihong Liu, Tian Liang, Yongbo Lu, Chunlin Qin
Mutations in the dentin sialophosphoprotein (DSPP) gene cause dentinogenesis imperfecta. After synthesis, DSPP is proteolytically processed into NH2- and COOH-terminal fragments. The NH2-terminal fragment of DSPP is highly glycosylated but not phosphorylated, whereas the COOH-terminal fragment (named "dentin phosphoprotein" or "DPP") is highly phosphorylated but not glycosylated. These two fragments are believed to perform distinct roles in dentin formation. To analyze the functions of DPP in dentinogenesis, we created "Dspp-/-;DPP Tg mice", which expressed transgenic DPP driven by a Type I collagen promoter but lacked the endogenous Dspp gene...
2018: PloS One
https://www.readbyqxmd.com/read/29606904/4q21-2q21-3-duplication-molecular-and-neuropsychological-aspects
#14
REVIEW
Ivan Y Iourov, Maria A Zelenova, Svetlana G Vorsanova, Victoria V Voinova, Yuri B Yurov
During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches. Here, we address previously undescribed chromosome 4q21.2q21.3 microduplication for gene prioritization, evaluation of cognitive abilities and estimation of genomic mechanisms for brain dysfunction by molecular cytogenetic (cytogenomic) and gene expression (meta-) analyses as well as for neuropsychological assessment...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29575674/dentin-dysplasia-type-i-a-dental-disease-with-genetic-heterogeneity
#15
REVIEW
D Chen, X Li, F Lu, Y Wang, F Xiong, Q Li
Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2...
March 25, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29520608/novel-compound-heterozygous-mutations-in-serpinh1-cause-rare-autosomal-recessive-osteogenesis-imperfecta-type-x
#16
Y Song, D Zhao, X Xu, F Lv, L Li, Y Jiang, O Wang, W Xia, X Xing, M Li
We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by low bone mineral density, recurrent fractures, and progressive bone deformities...
June 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29512331/dentinogenesis-imperfecta-type-ii-genotype-and-phenotype-analyses-in-three-danish-families
#17
Kawther Taleb, Eva Lauridsen, Jette Daugaard-Jensen, Pekka Nieminen, Sven Kreiborg
BACKGROUND: Dentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture. The aims of this study were to assess genotype-phenotype findings in three families with DI-II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations. METHODS: Nine patients participated in the study (two from family A, four from family B, and three from family C)...
May 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29489425/bone-morphogenetic-protein-2-coordinates-early-tooth-mineralization
#18
Z Malik, M Alexiou, B Hallgrimsson, A N Economides, H U Luder, D Graf
Formation of highly organized dental hard tissues is a complex process involving sequential and ordered deposition of an extracellular scaffold, followed by its mineralization. Odontoblast and ameloblast differentiation involves reciprocal and sequential epithelial-mesenchymal interactions. Similar to early tooth development, various Bmps are expressed during this process, although their functions have not been explored in detail. Here, we investigated the role of odontoblast-derived Bmp2 for tooth mineralization using Bmp2 conditional knockout mice...
July 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29403236/complete-overlay-denture-for-pedodontic-patient-with-severe-dentinogenesis-imperfecta
#19
Gibi Syriac, Elizabeth Joseph, Suresh Rupesh, Josey Mathew
Dentinogenesis imperfecta (DI) is a hereditary condition that may affect both primary and permanent dentition and is characterized by abnormal dentin formation. The teeth may be discolored with chipping of enamel and, in untreated cases, the entire dentition may wear off to the gingiva. This may lead to the formation of abscesses, tooth mobility, and early loss of teeth. In the Indian population, DI is found to have an incidence of 0.09%. Treatment of DI should aim to remove infection, if any, from the oral cavity; restore form, function, and esthetics; and protect posterior teeth from wear for maintaining the occlusal vertical dimension...
October 2017: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29252448/interferon-induced-transmembrane-protein-5-mutation-causing-type-v-osteogenesis-imperfecta-a-case-report
#20
Smitha Elizabeth Mathew, Mona Santhanam, Vrisha Madhuri
CASE: We report a case of heterozygous mutation of c.-14C>T in the 5'-untranslated region of the interferon-induced transmembrane protein 5 in a nine-year-old girl. She was diagnosed with type-V osteogenesis imperfecta based on the classic features of bone fragility, radial head dislocation, forearm interosseous membrane calcification, limited forearm rotation, hyperplastic callus formation, and radiodense metaphyseal bands, as well as absent blue sclerae, absence of hearing loss, and absence of dentinogenesis imperfecta...
February 25, 2015: JBJS Case Connector
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