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A review on non-syndromic tooth agenesis associated with PAX9 mutations

Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these...

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Main Authors: Fauzi, Nurul Hasyiqin, Ardini, Yunita Dewi, Zainuddin, Zarina, Lestari, Widya
Format: Article
Language:English
English
English
Published: Elsevier 2018
Subjects:
RK Dentistry
Online Access:http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf
http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf
http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf
http://irep.iium.edu.my/58927/
http://www.sciencedirect.com/science/article/pii/S1882761616300679
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spelling my.iium.irep.589272023-03-07T07:21:29Z http://irep.iium.edu.my/58927/ A review on non-syndromic tooth agenesis associated with PAX9 mutations Fauzi, Nurul Hasyiqin Ardini, Yunita Dewi Zainuddin, Zarina Lestari, Widya RK Dentistry Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of several genes for tooth epithelium and mesenchyme odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identiˇed as the main causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia. Previous study using animal models reported that PAX9-deˇcient knockout mice exhibit missing molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and nonsense mutations are reported to be responsible; however, the most severe condition showed by the phenotype is caused by haploinsufˇciency. This suggests that PAX9 is dosage-sensitive. Understanding the mechanism of genetic mutations will beneˇt clinicians and human geneticists in future alternative treatment investigations. Elsevier 2018 Article PeerReviewed application/pdf en http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf application/pdf en http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf application/pdf en http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf Fauzi, Nurul Hasyiqin and Ardini, Yunita Dewi and Zainuddin, Zarina and Lestari, Widya (2018) A review on non-syndromic tooth agenesis associated with PAX9 mutations. Japanese Dental Science Review, 54 (1). pp. 30-36. ISSN 1882-7616 http://www.sciencedirect.com/science/article/pii/S1882761616300679 10.1016/j.jdsr.2017.08.001
institution Universiti Islam Antarabangsa Malaysia
building IIUM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider International Islamic University Malaysia
content_source IIUM Repository (IREP)
url_provider http://irep.iium.edu.my/
language English
English
English
topic RK Dentistry
spellingShingle RK Dentistry
Fauzi, Nurul Hasyiqin
Ardini, Yunita Dewi
Zainuddin, Zarina
Lestari, Widya
A review on non-syndromic tooth agenesis associated with PAX9 mutations
description Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of several genes for tooth epithelium and mesenchyme odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identiˇed as the main causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia. Previous study using animal models reported that PAX9-deˇcient knockout mice exhibit missing molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and nonsense mutations are reported to be responsible; however, the most severe condition showed by the phenotype is caused by haploinsufˇciency. This suggests that PAX9 is dosage-sensitive. Understanding the mechanism of genetic mutations will beneˇt clinicians and human geneticists in future alternative treatment investigations.
format Article
author Fauzi, Nurul Hasyiqin
Ardini, Yunita Dewi
Zainuddin, Zarina
Lestari, Widya
author_facet Fauzi, Nurul Hasyiqin
Ardini, Yunita Dewi
Zainuddin, Zarina
Lestari, Widya
author_sort Fauzi, Nurul Hasyiqin
title A review on non-syndromic tooth agenesis associated with PAX9 mutations
title_short A review on non-syndromic tooth agenesis associated with PAX9 mutations
title_full A review on non-syndromic tooth agenesis associated with PAX9 mutations
title_fullStr A review on non-syndromic tooth agenesis associated with PAX9 mutations
title_full_unstemmed A review on non-syndromic tooth agenesis associated with PAX9 mutations
title_sort review on non-syndromic tooth agenesis associated with pax9 mutations
publisher Elsevier
publishDate 2018
url http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf
http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf
http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf
http://irep.iium.edu.my/58927/
http://www.sciencedirect.com/science/article/pii/S1882761616300679
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score 13.211869

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