PAX9 mutation of non-syndromic hypodontia in three Malaysian families

PAX9 mutation of non-syndromic hypodontia in three Malaysian families

OBJECTIVE: 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 Malaysian hypodontia families. MATERIAL-METHODS: 15 participants were selected from three hypodontia probands and their family...

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Main Author: Lestari, Widya
Format: Conference or Workshop Item
Language:English
Published: 2016
Subjects:
RK Dentistry
Online Access:http://irep.iium.edu.my/51183/
http://irep.iium.edu.my/51183/
http://irep.iium.edu.my/51183/1/51183_Widya.pdf
id iium-51183
recordtype eprints
spelling iium-511832018-05-22T02:28:03Z http://irep.iium.edu.my/51183/ PAX9 mutation of non-syndromic hypodontia in three Malaysian families Lestari, Widya RK Dentistry OBJECTIVE: 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 Malaysian hypodontia families. MATERIAL-METHODS: 15 participants were selected from three hypodontia probands and their family members. Clinical examination was done for all whilst orthophantomogram was taken for hypodontia patient only. Saliva was collected for genetic analysis. Direct sequencing was performed by using exon 2, 3 and 4 of PAX9. RESULTS: 5 out of 6 family members in family 1 have missing premolars and molars. Point mutation was identified on exon 2 of patients 1A;c.612delA,1D;c.614G>T,1E;c.621-622insC,1F;c.611delT and on exon 3 of patients 1A;c.462delG,1E;c.233C>A. The patient 1C (oligodontia) shown no mutation. Two members in second family have missing anterior teeth. The point of mutation was seen on exon 2 of patients 2A;c608G>T,2D;c.616G>T and on exon 3 of patient 2A;c.476delG. 3 out of 5 family members in family 3 are affected. The mother has missing posterior tooth, the daughters have missing anterior teeth. The point mutation was identified on exon 2 on patient 3C;c.620G>T and on exon 3 on patients 3B;c.465delG,3C;c.273T>G,3D;c.462delT. CONCLUSIONS: Identified point mutation of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in these families. 2016-06-17 Conference or Workshop Item NonPeerReviewed application/pdf en http://irep.iium.edu.my/51183/1/51183_Widya.pdf Lestari, Widya (2016) PAX9 mutation of non-syndromic hypodontia in three Malaysian families. In: 38th Asia Pacific Dental Congress (APDC 2016), 17th-19th June 2016, Hongkong. (Unpublished) http://www.apdc2016.org/
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
Lestari, Widya
PAX9 mutation of non-syndromic hypodontia in three Malaysian families
description OBJECTIVE: 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 Malaysian hypodontia families. MATERIAL-METHODS: 15 participants were selected from three hypodontia probands and their family members. Clinical examination was done for all whilst orthophantomogram was taken for hypodontia patient only. Saliva was collected for genetic analysis. Direct sequencing was performed by using exon 2, 3 and 4 of PAX9. RESULTS: 5 out of 6 family members in family 1 have missing premolars and molars. Point mutation was identified on exon 2 of patients 1A;c.612delA,1D;c.614G>T,1E;c.621-622insC,1F;c.611delT and on exon 3 of patients 1A;c.462delG,1E;c.233C>A. The patient 1C (oligodontia) shown no mutation. Two members in second family have missing anterior teeth. The point of mutation was seen on exon 2 of patients 2A;c608G>T,2D;c.616G>T and on exon 3 of patient 2A;c.476delG. 3 out of 5 family members in family 3 are affected. The mother has missing posterior tooth, the daughters have missing anterior teeth. The point mutation was identified on exon 2 on patient 3C;c.620G>T and on exon 3 on patients 3B;c.465delG,3C;c.273T>G,3D;c.462delT. CONCLUSIONS: Identified point mutation of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in these families.
format Conference or Workshop Item
author Lestari, Widya
author_facet Lestari, Widya
author_sort Lestari, Widya
title PAX9 mutation of non-syndromic hypodontia in three Malaysian families
title_short PAX9 mutation of non-syndromic hypodontia in three Malaysian families
title_full PAX9 mutation of non-syndromic hypodontia in three Malaysian families
title_fullStr PAX9 mutation of non-syndromic hypodontia in three Malaysian families
title_full_unstemmed PAX9 mutation of non-syndromic hypodontia in three Malaysian families
title_sort pax9 mutation of non-syndromic hypodontia in three malaysian families
publishDate 2016
url http://irep.iium.edu.my/51183/
http://irep.iium.edu.my/51183/
http://irep.iium.edu.my/51183/1/51183_Widya.pdf
first_indexed 2023-09-18T21:12:26Z
last_indexed 2023-09-18T21:12:26Z
_version_ 1777411341984727040

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