PAX9 mutation of non-syndromic hypodontia in a Malaysian family
Objective: Hypodontia is portrayed by the missing of one to six numbers of teeth. PAX9 is one of the genes that caused non-syndromic hypodontia. We aimed to investigate the PAX9 mutation of non-syndromic hypodontia with clinical variability in a Malaysian hypodontia family. Methods: Clinical examin...
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| Format: | Article |
| Language: | English |
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University of Indonesia
2016
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| Online Access: | http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/1/hypodontia-published-UI.pdf |
| _version_ | 1848784866840150016 |
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| author | Mohamed Idrus, Nur Farahiyah Rosley, Nur Syahira Irfanita, Nining Ardini, Yunita Dewi Arief Ichwan, Solachuddin Jauhari Lestari, Widya |
| author_facet | Mohamed Idrus, Nur Farahiyah Rosley, Nur Syahira Irfanita, Nining Ardini, Yunita Dewi Arief Ichwan, Solachuddin Jauhari Lestari, Widya |
| author_sort | Mohamed Idrus, Nur Farahiyah |
| building | IIUM Repository |
| collection | Online Access |
| description | Objective: Hypodontia is portrayed by the missing of one to six numbers of teeth. PAX9 is one of the genes that caused non-syndromic hypodontia. We aimed to investigate the PAX9 mutation of non-syndromic hypodontia with clinical variability in a Malaysian hypodontia family.
Methods: Clinical examinations for all participants whilst orthophantomogram (OPG) was taken for hypodontia patient only. Saliva was collected for genetic analysis. Direct sequencing was performed by using exon 2and 3 of PAX9 gene.
Results: 3 out of 5 family members are affected with hypodontia. The mother has missing posterior tooth and her daughters have missing anterior teeth. The point mutation was identified on exon 2 on patient 1C; c.620G>T and on exon 3 on patients 1B; c.465delG, 1C; c.273T>G, 1D; c.462delT.
Conclusions: Our findings suggested those identified points mutations of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in this family. |
| first_indexed | 2025-11-14T16:44:04Z |
| format | Article |
| id | iium-57107 |
| institution | International Islamic University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T16:44:04Z |
| publishDate | 2016 |
| publisher | University of Indonesia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | iium-571072023-03-07T07:24:26Z http://irep.iium.edu.my/57107/ PAX9 mutation of non-syndromic hypodontia in a Malaysian family Mohamed Idrus, Nur Farahiyah Rosley, Nur Syahira Irfanita, Nining Ardini, Yunita Dewi Arief Ichwan, Solachuddin Jauhari Lestari, Widya RK Dentistry Objective: Hypodontia is portrayed by the missing of one to six numbers of teeth. PAX9 is one of the genes that caused non-syndromic hypodontia. We aimed to investigate the PAX9 mutation of non-syndromic hypodontia with clinical variability in a Malaysian hypodontia family. Methods: Clinical examinations for all participants whilst orthophantomogram (OPG) was taken for hypodontia patient only. Saliva was collected for genetic analysis. Direct sequencing was performed by using exon 2and 3 of PAX9 gene. Results: 3 out of 5 family members are affected with hypodontia. The mother has missing posterior tooth and her daughters have missing anterior teeth. The point mutation was identified on exon 2 on patient 1C; c.620G>T and on exon 3 on patients 1B; c.465delG, 1C; c.273T>G, 1D; c.462delT. Conclusions: Our findings suggested those identified points mutations of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in this family. University of Indonesia 2016-10-29 Article NonPeerReviewed application/pdf en http://irep.iium.edu.my/57107/1/hypodontia-published-UI.pdf Mohamed Idrus, Nur Farahiyah and Rosley, Nur Syahira and Irfanita, Nining and Ardini, Yunita Dewi and Arief Ichwan, Solachuddin Jauhari and Lestari, Widya (2016) PAX9 mutation of non-syndromic hypodontia in a Malaysian family. UI Proceedings on Health and Medicine, 1. pp. 108-111. ISSN 1386-7423 E-ISSN 1572-8633 http://proceedings.ui.ac.id/index.php/uiphm/article/view/37/73 |
| spellingShingle | RK Dentistry Mohamed Idrus, Nur Farahiyah Rosley, Nur Syahira Irfanita, Nining Ardini, Yunita Dewi Arief Ichwan, Solachuddin Jauhari Lestari, Widya PAX9 mutation of non-syndromic hypodontia in a Malaysian family |
| title | PAX9 mutation of non-syndromic hypodontia in a Malaysian family |
| title_full | PAX9 mutation of non-syndromic hypodontia in a Malaysian family |
| title_fullStr | PAX9 mutation of non-syndromic hypodontia in a Malaysian family |
| title_full_unstemmed | PAX9 mutation of non-syndromic hypodontia in a Malaysian family |
| title_short | PAX9 mutation of non-syndromic hypodontia in a Malaysian family |
| title_sort | pax9 mutation of non-syndromic hypodontia in a malaysian family |
| topic | RK Dentistry |
| url | http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/1/hypodontia-published-UI.pdf |