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Genotype-Phenotype Correlations Yu et al. Marla J. Creation Date:. Victor A. Edit History:. Molecular Genetics. Tooth agenesis, selective, 1, with or without orofacial cleft. Tooth agenesis, selective, 9. Tooth agenesis, selective, 4. AD , AR.
Tooth agenesis, selective, 5. Tooth agenesis, selective, 7. Tooth agenesis, selective, 8. Tooth agenesis, selective, 3. Tooth agenesis, selective, 2. Tooth agenesis, selective, X-linked 1. Erratum in: Nat Genet Journal of Medical Genetics 49 : — European Journal of Oral Sciences : 97 — Vastardis H The genetics of human tooth agenesis: new discoveries for understanding dental anomalies.
American Journal of Orthodontics and Dentofacial Orthopedics : — Vieira A R Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. Journal of Dental Research 82 : — Part A : — Vieira A R Unraveling human cleft lip and palate research. Wang J et al. Archives of Oral Biology 56 : — Oxford University Press is a department of the University of Oxford.
It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide. Sign In or Create an Account. Sign In. Advanced Search. Search Menu. Article Navigation. Close mobile search navigation Article Navigation. Volume Material and methods. Supplementary material. Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees.
Karoline Dreesen , Karoline Dreesen. Oxford Academic. Steven Swinnen. Koenraad Devriendt. Carine Carels. Select Format Select format. Permissions Icon Permissions. Open in new tab Download slide. Table 1 Frequency table, distribution of total number of missing teeth for the 60 non-syndromic oligodontia index patients. Number of missing teeth. Open in new tab. Table 2 Single tooth symmetry statistics.
Present bilaterally. Missing right side q1. Missing left side q2. Missing bilaterally. Upper jaw CI 59 The genetic basis of inherited anomalies of the teeth. Google Scholar Crossref. Search ADS. A unifying aetiological explanation for anomalies of human tooth number and size. Multilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development.
Google Scholar PubMed. De Coster. De Muynck. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Mirror image in aplasia of a premolar in a monochorial twin: Case report and review. Tooth evolution and dental defects: from genetic regulation network to micro-RNA fine-tuning. A novel c. Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Maxillary canine-first premolar transposition, associated dental anomalies and genetic basis. Schalk-van der Weide. Distribution of missing teeth and tooth morphology in patients with oligodontia. Third-molar development in relation to chronologic age in Turkish children and young adults.
Investigating the aetiology of multiple tooth agenesis in three sisters with severe oligodontia. Epigenetic influences may explain dental differences in monozygotic twin pairs. Genetic and environmental influences on human dental variation: a critical evaluation of studies involving twins. Genetic, environmental and epigenetic influences on variation in human tooth number, size and shape.
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Mutations in WNT10A are present in more than half of isolated hypodontia cases. A numeric code for identifying patterns of human tooth agenesis: a new approach. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis.
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New issue alert. Receive exclusive offers and updates from Oxford Academic. See also Companion Article Beni Solow award More on this topic Hypodontia in orthodontically treated children. Association between severity of hypodontia and cephalometric skeletal patterns: a retrospective study. Severe hypodontia: identifying patterns of human tooth agenesis. Tooth dimensions in hypodontia patients, their unaffected relatives and a control group measured by a new image analysis system.
Until now, there have been four EDA mutations, p. R65G, p. QE, p. TM that have been reported associated with unique tooth agenesis. TM are all in the TNF domain. These three mutants seem to share similar consequences: they all disrupt the interactions in the homotrimer and therefore result in the inability of EDA to interact with its target receptors.
One unique feature among these mutants is that DG is directly involved in interactions of the monomers, while the other two mutations indirectly affect the interactions of the EDA homotrimers.
This difference may account for the phenotype of p. DG being more severe than that of p. TM and the phenotype of p. TM is very similar to that of p. In the p. R65G mutant, the substitution occurs on the edge of the transmembrane domain of the EDA protein and its effect on EDA function is still not clear. Here we identify novel mutations in the EDA gene that are involved in the X-linked isolated hypodontia and provide an explanation for the clinical phenotype at the molecular structural level.
This is an initial step in explaining the pathogenic mechanisms underlying EDA-mediated tooth agenesis. Further in vivo expression and functional characterization of the mutated protein might present more direct explanations for how the malfunctions in EDA protein caused by the identified missense mutations disrupted the tooth development.
Detailed histories and pedigree information about the affected two families, which were designated Family A and Family B Fig. After consents were obtained from all participating individuals, venous blood samples were collected and genomic DNA was isolated with the QIAmp Blood kit Qiagen, Germany. In addition to these two families, normal unrelated individuals of the same ethnic background male and female were recruited as controls.
By haplotype analysis of the pedigree, we confirmed that EDA is our best candidate gene. Previously designed primers flanking the coding regions of the eight exons of EDA were used to amplify the genomic DNA by polymerase chain reaction [22]. We are grateful to the families who generously contributed their time and materials for this research.
We also thank Dr. Xuexun Fang Jilin University and Ms. Marylyn White Nanjing University for language editing. Conceived and designed the experiments: ZH.
Clinical diagnosis: BZ QH. Browse Subject Areas? Click through the PLOS taxonomy to find articles in your field. Abstract Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. Introduction Tooth development is a complex process with reciprocal interactions between the dental epithelium and mesenchyme; many transcription factors and signaling molecules are involved to guide this process. Results Clinical Examination The pedigrees are shown in Fig.
Download: PPT. Figure 1. Pedigree structure of the two Chinese families with tooth agenesis. Positional cloning of the oligodontia gene By haplotype analysis of the pedigree of Family A Fig. Figure 4. Candidate genes identified in the critical region in the XpXq Mutation analysis To identify possible mutations in the EDA gene, we first sequenced all eight exons coding for EDA in two affected males and two female carriers in Family A.
Figure 5. Molecular Modeling The EDA gene product is a type-II transmembrane protein with a small N-terminal intracellular domain followed by a larger C-terminal extracellular domain.
Discussion In this study, we identify two novel mutations in the EDA gene in two independent Chinese families with isolated tooth agenesis. Mutation analysis By haplotype analysis of the pedigree, we confirmed that EDA is our best candidate gene. Acknowledgments We are grateful to the families who generously contributed their time and materials for this research.
Author Contributions Conceived and designed the experiments: ZH. References 1. Development — View Article Google Scholar 2. Vieira AR Oral clefts and syndromic forms of tooth agenesis may be the best models for genetics of isolated tooth agenesis.
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