Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations
X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia alone or in the presence of other craniofacial features including hypodontia or CLP might be caused by TBX22 mutations, we analyzed 45 Thai pati...
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2014
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th-cmuir.6653943832-10502014-08-29T09:17:40Z Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations Kantaputra P.N. Paramee M. Kaewkhampa A. Hoshino A. Lees M. McEntagart M. Masrour N. Moore G.E. Pauws E. Stanier P. X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia alone or in the presence of other craniofacial features including hypodontia or CLP might be caused by TBX22 mutations, we analyzed 45 Thai patients with isolated ankyloglossia, 2 unusual CPA families, and 282 non-syndromic Thai and UK patients with CLP. Five putative missense mutations were identified, including 3 located in the T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. The 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. Mutations R120Q and P389Q were identified in patients with ankyloglossia only, while R126W and R151L were present in families that included CLP. Several individuals in these families were also found to have micro/hypodontia. This study has expanded the phenotypic spectrum of TBX22-related mutations to include dental anomalies and cleft lip. © 2011 International & American Associations for Dental Research. 2014-08-29T09:17:40Z 2014-08-29T09:17:40Z 2011 Conference Paper 220345 10.1177/0022034510391052 21248356 JDREA http://www.scopus.com/inward/record.url?eid=2-s2.0-79954578070&partnerID=40&md5=c7eac0c892d354568b826f3eb414e345 http://www.ncbi.nlm.nih.gov/pubmed/21248356 http://cmuir.cmu.ac.th/handle/6653943832/1050 English |
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X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia alone or in the presence of other craniofacial features including hypodontia or CLP might be caused by TBX22 mutations, we analyzed 45 Thai patients with isolated ankyloglossia, 2 unusual CPA families, and 282 non-syndromic Thai and UK patients with CLP. Five putative missense mutations were identified, including 3 located in the T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. The 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. Mutations R120Q and P389Q were identified in patients with ankyloglossia only, while R126W and R151L were present in families that included CLP. Several individuals in these families were also found to have micro/hypodontia. This study has expanded the phenotypic spectrum of TBX22-related mutations to include dental anomalies and cleft lip. © 2011 International & American Associations for Dental Research. |
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Conference or Workshop Item |
author |
Kantaputra P.N. Paramee M. Kaewkhampa A. Hoshino A. Lees M. McEntagart M. Masrour N. Moore G.E. Pauws E. Stanier P. |
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Kantaputra P.N. Paramee M. Kaewkhampa A. Hoshino A. Lees M. McEntagart M. Masrour N. Moore G.E. Pauws E. Stanier P. Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations |
author_facet |
Kantaputra P.N. Paramee M. Kaewkhampa A. Hoshino A. Lees M. McEntagart M. Masrour N. Moore G.E. Pauws E. Stanier P. |
author_sort |
Kantaputra P.N. |
title |
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations |
title_short |
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations |
title_full |
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations |
title_fullStr |
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations |
title_full_unstemmed |
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations |
title_sort |
cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with tbx22 mutations |
publishDate |
2014 |
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http://www.scopus.com/inward/record.url?eid=2-s2.0-79954578070&partnerID=40&md5=c7eac0c892d354568b826f3eb414e345 http://www.ncbi.nlm.nih.gov/pubmed/21248356 http://cmuir.cmu.ac.th/handle/6653943832/1050 |
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1681419583970344960 |