TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly

TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly

Mutations in TBX22 are known causes of cleft palate with/without ankyloglossia. We identified a hemizygous missense c.452G>T (p.Arg151Leu) mutation in a Thai boy who had unilateral complete cleft lip and palate, agenesis of a maxillary second premolar, ankyloglossia, hypoplastic carpal bones, and...

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Main Authors: Arunee Kaewkhampa, Dhirawat Jotikasthira, Sutti Malaivijitnond, Piranit Kantaputra
Format: Journal
Published: 2018
Subjects:
Dentistry
Medicine
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84858612750&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/51558
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-515582018-09-04T06:12:33Z TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly Arunee Kaewkhampa Dhirawat Jotikasthira Sutti Malaivijitnond Piranit Kantaputra Dentistry Medicine Mutations in TBX22 are known causes of cleft palate with/without ankyloglossia. We identified a hemizygous missense c.452G>T (p.Arg151Leu) mutation in a Thai boy who had unilateral complete cleft lip and palate, agenesis of a maxillary second premolar, ankyloglossia, hypoplastic carpal bones, and hypoplastic right thumb. Our study has demonstrated that TBX22 mutation is associated not only with cleft palate and ankyloglossia, but also cleft lip and palate and tooth agenesis. Phenotypic variability caused by a single nucleotide substitution is clearly demonstrated. 2018-09-04T06:04:12Z 2018-09-04T06:04:12Z 2012-01-01 Journal 15451569 10556656 2-s2.0-84858612750 10.1597/10-208 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84858612750&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/51558
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Dentistry
Medicine
spellingShingle Dentistry
Medicine
Arunee Kaewkhampa
Dhirawat Jotikasthira
Sutti Malaivijitnond
Piranit Kantaputra
TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
description Mutations in TBX22 are known causes of cleft palate with/without ankyloglossia. We identified a hemizygous missense c.452G>T (p.Arg151Leu) mutation in a Thai boy who had unilateral complete cleft lip and palate, agenesis of a maxillary second premolar, ankyloglossia, hypoplastic carpal bones, and hypoplastic right thumb. Our study has demonstrated that TBX22 mutation is associated not only with cleft palate and ankyloglossia, but also cleft lip and palate and tooth agenesis. Phenotypic variability caused by a single nucleotide substitution is clearly demonstrated.
format Journal
author Arunee Kaewkhampa
Dhirawat Jotikasthira
Sutti Malaivijitnond
Piranit Kantaputra
author_facet Arunee Kaewkhampa
Dhirawat Jotikasthira
Sutti Malaivijitnond
Piranit Kantaputra
author_sort Arunee Kaewkhampa
title TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
title_short TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
title_full TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
title_fullStr TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
title_full_unstemmed TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
title_sort tbx22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84858612750&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/51558
_version_ 1681423791471722496

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