一个患有非综合征性少牙症的日本家庭中的新型MSX1移码突变。
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
作者信息
Adachi Junya, Aoki Yoshihiko, Tatematsu Tadashi, Goto Hiroki, Nakayama Atsuo, Nishiyama Takeshi, Takahashi Katsu, Sana Masatoshi, Ota Akiko, Machida Junichiro, Nagao Toru, Tokita Yoshihito
机构信息
Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
出版信息
Hum Genome Var. 2021 Jul 20;8(1):29. doi: 10.1038/s41439-021-00161-x.
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.
先天性牙齿缺失是人类常见的一种异常情况。我们通过对日本患者进行外显子组分析来研究人类牙齿缺失的病因，发现在MSX1基因的第一个外显子中存在一个之前未被描述的杂合缺失（NM_002448.3(MSX1_v001):c.433_449del）。该缺失导致移码并产生一个提前终止密码子。MSX1的截短形式，即p.(Trp145Leufs*24)，缺少对转录因子功能至关重要的同源结构域。
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