Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia,Human Genome Variation

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Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
Human Genome Variation ( IF 1.0 ) Pub Date : 2021-07-20 , DOI: 10.1038/s41439-021-00161-x
Junya Adachi _{1,

2} , Yoshihiko Aoki _{1,

2} , Tadashi Tatematsu _{1,

2} , Hiroki Goto _{1,

2} , Atsuo Nakayama ₃ , Takeshi Nishiyama ₄ , Katsu Takahashi ₅ , Masatoshi Sana ₆ , Akiko Ota ₇ , Junichiro Machida _{1,

8} , Toru Nagao ₁ , Yoshihito Tokita _{1,

2}

Affiliation

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.

中文翻译：

日本非综合征性少牙症家族中的新型 MSX1 移码突变

先天性牙齿发育不全是人类常见的异常现象。我们通过日本患者的外显子组分析研究了人类牙齿发育不全的病因，并在MSX1基因的第一个外显子中发现了以前未描述的杂合缺失 (NM_002448.3(MSX1_v001):c.433_449del) 。删除导致移码并产生提前终止密码子。MSX1 的截短形式，即 p.(Trp145Leufs*24) 缺乏对转录因子功能至关重要的同源域。

更新日期：2021-07-20

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