Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

Junya Adachi; Yoshihiko Aoki; Tadashi Tatematsu; Hiroki Goto; Atsuo Nakayama; Takeshi Nishiyama; Katsu Takahashi; Masatoshi Sana; Akiko Ota; Junichiro Machida; Toru Nagao; Yoshihito Tokita

doi:10.1038/s41439-021-00161-x

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

Hum Genome Var. 2021 Jul 20;8(1):29. doi: 10.1038/s41439-021-00161-x.

Authors

Junya Adachi^{1

2}, Yoshihiko Aoki^{1

2}, Tadashi Tatematsu^{1

2}, Hiroki Goto^{1

2}, Atsuo Nakayama³, Takeshi Nishiyama⁴, Katsu Takahashi⁵, Masatoshi Sana⁶, Akiko Ota⁷, Junichiro Machida^{1

8}, Toru Nagao¹, Yoshihito Tokita^{9

10}

Affiliations

¹ Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
² Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
³ Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
⁴ Department of Public Health, School of Medicine, Nagoya City University, Nagoya, Japan.
⁵ Dentistry & Oral Surgery,Tazuke Kofukai, Medical Research Institute, Kitano Hospital, Osaka, Japan.
⁶ Nagoya Orthodontic Clinic, Nagoya, Japan.
⁷ Department of Oncology, Toyota Memorial Hospital, Toyota, Japan.
⁸ Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan.
⁹ Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan. tokita@inst-hsc.jp.
¹⁰ Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan. tokita@inst-hsc.jp.

Abstract

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.

Abstract

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