PAX9 mutation of non-syndromic hypodontia in a Malaysian family

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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Main Authors: Mohamed Idrus, Nur Farahiyah, Rosley, Nur Syahira, Irfanita, Nining, Ardini, Yunita Dewi, Ichwan, Solachuddin J. A., Lestari, Widya
Format: Conference or Workshop Item
Language:English
English
Published: UI Proceedings Series 2016
Subjects:
RK Dentistry
Online Access:http://irep.iium.edu.my/53301/
http://irep.iium.edu.my/53301/
http://irep.iium.edu.my/53301/13/53301%20slides.pdf
http://irep.iium.edu.my/53301/19/Dr%20Widya%20KOD.pdf
id iium-53301
recordtype eprints
spelling iium-533012017-10-12T10:43:12Z http://irep.iium.edu.my/53301/ PAX9 mutation of non-syndromic hypodontia in a Malaysian family Mohamed Idrus, Nur Farahiyah Rosley, Nur Syahira Irfanita, Nining Ardini, Yunita Dewi Ichwan, Solachuddin J. A. 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 point mutation of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in this family. UI Proceedings Series 2016 Conference or Workshop Item PeerReviewed application/pdf en http://irep.iium.edu.my/53301/13/53301%20slides.pdf application/pdf en http://irep.iium.edu.my/53301/19/Dr%20Widya%20KOD.pdf Mohamed Idrus, Nur Farahiyah and Rosley, Nur Syahira and Irfanita, Nining and Ardini, Yunita Dewi and Ichwan, Solachuddin J. A. and Lestari, Widya (2016) PAX9 mutation of non-syndromic hypodontia in a Malaysian family. In: 10th International Dentistry Scientific Meeting (IDSM) 2016, 29th-30th October 2016, Depok, Indonesia. http://proceedings.ui.ac.id/index.php/uiphm/article/view/37/73
repository_type Digital Repository
institution_category Local University
institution International Islamic University Malaysia
building IIUM Repository
collection Online Access
language English
English
topic RK Dentistry
spellingShingle RK Dentistry
Mohamed Idrus, Nur Farahiyah
Rosley, Nur Syahira
Irfanita, Nining
Ardini, Yunita Dewi
Ichwan, Solachuddin J. A.
Lestari, Widya
PAX9 mutation of non-syndromic hypodontia in a Malaysian family
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 point mutation of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in this family.
format Conference or Workshop Item
author Mohamed Idrus, Nur Farahiyah
Rosley, Nur Syahira
Irfanita, Nining
Ardini, Yunita Dewi
Ichwan, Solachuddin J. A.
Lestari, Widya
author_facet Mohamed Idrus, Nur Farahiyah
Rosley, Nur Syahira
Irfanita, Nining
Ardini, Yunita Dewi
Ichwan, Solachuddin J. A.
Lestari, Widya
author_sort Mohamed Idrus, Nur Farahiyah
title PAX9 mutation of non-syndromic hypodontia in a Malaysian family
title_short 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_sort pax9 mutation of non-syndromic hypodontia in a malaysian family
publisher UI Proceedings Series
publishDate 2016
url http://irep.iium.edu.my/53301/
http://irep.iium.edu.my/53301/
http://irep.iium.edu.my/53301/13/53301%20slides.pdf
http://irep.iium.edu.my/53301/19/Dr%20Widya%20KOD.pdf
first_indexed 2023-09-18T21:15:27Z
last_indexed 2023-09-18T21:15:27Z
_version_ 1777411531572510720

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