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Genetics of Dental Disorders
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Genetics of Dental Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (1 December 2021) | Viewed by 5426

Special Issue Editor

Prof. Dr. Jung-Wook Kim

E-Mail Website
Guest Editor
Department of Pediatric Dentistry, Department of Molecular Genetics, School of Dentistry, Seoul National University, Seoul 151-742, Republic of Korea
Interests: dental genetic disorders; amelogenesis imperfecta; dentinogenesis imperfecta; oligodontia; molar incisor hypomineralization; molar root-incisor malformation

Special Issue Information

Dear Colleagues,

Dental genetic disorders include, but are not limited to, rare genetic defects in tooth components, such as tooth enamel, dentin, and cement; and single or multiple ageneses of the tooth itself. Tooth development is a result of a series of reciprocal interactions between ectoderm and mesoderm from the beginning. There is a large number of factors involved in tooth formation that should be well-controlled under strict surveillance and harmonious interactions. There are still many genes that await identification. Identification of the genotype–phenotype relationship and a disease-causing mechanism will help us to understand the process of normal tooth development.

In this Special Issue, “Genetics of Dental Disorders”, we are inviting submissions of original research articles, review articles, and communications related to various aspects of dental genetic diseases. This Special Issue also welcomes studies focused on functional studies for disease-related genes or variants, personalized genetics, gene expression analyses, and new animal models.

Prof. Dr. Jung-Wook Kim
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Amelogenesis Imperfecta
  • Dentinogenesis Imperfecta
  • Oligodontia 
  • Hypodontia
  • Molar Incisor Hypomineralization
  • Molar root-incisor malformation
  • Animal model

Published Papers (2 papers)

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Research

16 pages, 715 KiB  
Article
Association of Polymorphic and Haplotype Variants of the MSX1 Gene and the Impacted Teeth Phenomenon
by Grzegorz Trybek, Aleksandra Jaroń and Anna Grzywacz
Genes 2021, 12(4), 577; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12040577 - 16 Apr 2021
Cited by 8 | Viewed by 2484
Abstract
It is known that genetic factors determine odontogenesis; furthermore, studies have revealed that various genes in humans can regulate the development of different types and generations of teeth. In this study it has been assumed that tooth impaction—at least to some extent—also depends [...] Read more.
It is known that genetic factors determine odontogenesis; furthermore, studies have revealed that various genes in humans can regulate the development of different types and generations of teeth. In this study it has been assumed that tooth impaction—at least to some extent—also depends on the presence of specific genetic markers, especially allelic variants of the MSX1 gene. The primary objective of the study was to evaluate the suitability of selected molecular markers located within the MSX1 gene for the determination of the risk of tooth impaction in particular patients. The study participants were divided into two groups: (1) the study group—at least one secondary tooth was impacted in the jaws; (2) the control group—no impacted tooth in the jaws. Real-Time PCR and TaqMan probes were used to detect selected polymorphisms in the analyzed genes. Two single nucleotide polymorphisms of MSX1 were analyzed. After the two subgroups of patients were distinguished in the study group based on the number of impacted teeth, statistically significant differences in the frequency of genotypes described for rs12532 in the MSX1 gene were found. Full article
(This article belongs to the Special Issue Genetics of Dental Disorders)
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7 pages, 2298 KiB  
Communication
A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta
by Youn Jung Kim, Yejin Lee, Hong Zhang, Ji-Soo Song, Jan C.-C. Hu, James P. Simmer and Jung-Wook Kim
Genes 2021, 12(3), 346; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12030346 - 26 Feb 2021
Cited by 8 | Viewed by 1856
Abstract
Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting tooth enamel formation. Here we report an identification of a novel de novo missense mutation [c.817_818delinsAT, p.(Ala273Met)] in the SP6 gene, causing non-syndromic autosomal dominant AI. This is the second paper [...] Read more.
Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting tooth enamel formation. Here we report an identification of a novel de novo missense mutation [c.817_818delinsAT, p.(Ala273Met)] in the SP6 gene, causing non-syndromic autosomal dominant AI. This is the second paper on amelogenesis imperfecta caused by SP6 mutation. Interestingly the identified mutation in this study is a 2-bp variant at the same nucleotide positions as the first report, but with AT instead of AA insertion. Clinical phenotype was much more severe compared to the previous report, and western blot showed an extremely decreased level of mutant protein compared to the wild-type, even though the mRNA level was similar. Full article
(This article belongs to the Special Issue Genetics of Dental Disorders)
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