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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Main Authors:	Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Takeshi Nishiyama, Katsu Takahashi, Masatoshi Sana, Akiko Ota, Junichiro Machida, Toru Nagao, Yoshihito Tokita
Format:	Article
Language:	English
Published:	Nature Publishing Group 2021-07-01
Series:	Human Genome Variation
Online Access:	https://doi.org/10.1038/s41439-021-00161-x

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spelling	doaj-8435a11a51bf4a10b3d6c635289816582021-07-25T11:31:57ZengNature Publishing GroupHuman Genome Variation2054-345X2021-07-01811310.1038/s41439-021-00161-xNovel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontiaJunya Adachi0Yoshihiko Aoki1Tadashi Tatematsu2Hiroki Goto3Atsuo Nakayama4Takeshi Nishiyama5Katsu Takahashi6Masatoshi Sana7Akiko Ota8Junichiro Machida9Toru Nagao10Yoshihito Tokita11Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability CenterDepartment of Public Health, School of Medicine, Nagoya City UniversityDentistry & Oral Surgery,Tazuke Kofukai, Medical Research Institute, Kitano HospitalNagoya Orthodontic ClinicDepartment of Oncology, Toyota Memorial HospitalDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityCongenital 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.https://doi.org/10.1038/s41439-021-00161-x
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Junya Adachi Yoshihiko Aoki Tadashi Tatematsu Hiroki Goto Atsuo Nakayama Takeshi Nishiyama Katsu Takahashi Masatoshi Sana Akiko Ota Junichiro Machida Toru Nagao Yoshihito Tokita
spellingShingle	Junya Adachi Yoshihiko Aoki Tadashi Tatematsu Hiroki Goto Atsuo Nakayama Takeshi Nishiyama Katsu Takahashi Masatoshi Sana Akiko Ota Junichiro Machida Toru Nagao Yoshihito Tokita Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia Human Genome Variation
author_facet	Junya Adachi Yoshihiko Aoki Tadashi Tatematsu Hiroki Goto Atsuo Nakayama Takeshi Nishiyama Katsu Takahashi Masatoshi Sana Akiko Ota Junichiro Machida Toru Nagao Yoshihito Tokita
author_sort	Junya Adachi
title	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_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_sort	novel msx1 frameshift mutation in a japanese family with nonsyndromic oligodontia
publisher	Nature Publishing Group
series	Human Genome Variation
issn	2054-345X
publishDate	2021-07-01
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.
url	https://doi.org/10.1038/s41439-021-00161-x
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Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

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