Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads...

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Autores principales: Adachi, Junya, Aoki, Yoshihiko, Tatematsu, Tadashi, Goto, Hiroki, Nakayama, Atsuo, Nishiyama, Takeshi, Takahashi, Katsu, Sana, Masatoshi, Ota, Akiko, Machida, Junichiro, Nagao, Toru, Tokita, Yoshihito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292458/
https://www.ncbi.nlm.nih.gov/pubmed/34285200
http://dx.doi.org/10.1038/s41439-021-00161-x
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author Adachi, Junya
Aoki, Yoshihiko
Tatematsu, Tadashi
Goto, Hiroki
Nakayama, Atsuo
Nishiyama, Takeshi
Takahashi, Katsu
Sana, Masatoshi
Ota, Akiko
Machida, Junichiro
Nagao, Toru
Tokita, Yoshihito
author_facet Adachi, Junya
Aoki, Yoshihiko
Tatematsu, Tadashi
Goto, Hiroki
Nakayama, Atsuo
Nishiyama, Takeshi
Takahashi, Katsu
Sana, Masatoshi
Ota, Akiko
Machida, Junichiro
Nagao, Toru
Tokita, Yoshihito
author_sort Adachi, Junya
collection PubMed
description Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads to a frameshift and generates a premature termination codon. The truncated form of MSX1, namely, p.(Trp145Leufs*24) lacks the homeodomain, which is crucial for transcription factor function.
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spelling pubmed-82924582021-07-23 Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia Adachi, Junya Aoki, Yoshihiko Tatematsu, Tadashi Goto, Hiroki Nakayama, Atsuo Nishiyama, Takeshi Takahashi, Katsu Sana, Masatoshi Ota, Akiko Machida, Junichiro Nagao, Toru Tokita, Yoshihito Hum Genome Var Data Report Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads to a frameshift and generates a premature termination codon. The truncated form of MSX1, namely, p.(Trp145Leufs*24) lacks the homeodomain, which is crucial for transcription factor function. Nature Publishing Group UK 2021-07-20 /pmc/articles/PMC8292458/ /pubmed/34285200 http://dx.doi.org/10.1038/s41439-021-00161-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Adachi, Junya
Aoki, Yoshihiko
Tatematsu, Tadashi
Goto, Hiroki
Nakayama, Atsuo
Nishiyama, Takeshi
Takahashi, Katsu
Sana, Masatoshi
Ota, Akiko
Machida, Junichiro
Nagao, Toru
Tokita, Yoshihito
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
title Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
title_full Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
title_fullStr Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
title_full_unstemmed Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
title_short Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
title_sort novel msx1 frameshift mutation in a japanese family with nonsyndromic oligodontia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292458/
https://www.ncbi.nlm.nih.gov/pubmed/34285200
http://dx.doi.org/10.1038/s41439-021-00161-x
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