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, Arief Ichwan, Solachuddin Jauhari, Lestari, Widya
Format:	Article
Language:	English
Published:	University of Indonesia 2016
Subjects:	RK Dentistry
Online Access:	http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/1/hypodontia-published-UI.pdf

id	iium-57107
recordtype	eprints
spelling	iium-571072017-10-12T10:36:21Z 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
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English
topic	RK Dentistry
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
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.
format	Article
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
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	University of Indonesia
publishDate	2016
url	http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/1/hypodontia-published-UI.pdf
first_indexed	2023-09-18T21:20:40Z
last_indexed	2023-09-18T21:20:40Z
_version_	1777411859745341440

PAX9 mutation of non-syndromic hypodontia in a Malaysian family

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