一个患有少牙症的日本家族中的一种新型低密度脂蛋白受体相关蛋白6（LRP6）变体。
A novel LRP6 variant in a Japanese family with oligodontia.
作者信息
Goto Hiroki, Kimura Masashi, Machida Junichiro, Ota Akiko, Nakashima Mitsuko, Tsuchida Naomi, Adachi Junya, Aoki Yoshihiko, Tatematsu Tadashi, Takahashi Katsu, Sana Masatoshi, Nakayama Atsuo, Suzuki Shintaro, Nagao Toru, Matsumoto Naomichi, Tokita Yoshihito
机构信息
Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Department of Oral and Maxillofacial Surgery, Toyokawa City Hospital, Toyokawa, Japan.
出版信息
Hum Genome Var. 2021 Jul 20;8(1):30. doi: 10.1038/s41439-021-00162-w.
Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in the LRP6 gene, the product of which is involved in Wnt/β-catenin signaling as a coreceptor for Wnt ligands. The single-nucleotide insertion results in a premature stop codon in the extracellular region of the encoded protein.
先天性牙齿缺失是人类发育中常见的异常情况。我们对从患有牙齿缺失的日本患者及其亲属收集的基因组DNA进行了外显子组序列分析。我们在LRP6基因中发现了一个新的单核苷酸插入，该基因的产物作为Wnt配体的共受体参与Wnt/β-连环蛋白信号传导。该单核苷酸插入导致编码蛋白的细胞外区域出现提前终止密码子。
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