一名日本少牙症患者中WNT10A基因的新型移码变异体。

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

作者信息

Ando Michiyo, Aoki Yoshihiko, Sano Yasuto, Adachi Junya, Sana Masatoshi, Miyabe Satoru, Watanabe Satoshi, Hasegawa Shogo, Miyachi Hitoshi, Machida Junichiro, Goto Mitsuo, 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. 2024 Jan 23;11(1):5. doi: 10.1038/s41439-023-00259-4.

DOI:10.1038/s41439-023-00259-4

PMID:38263268

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10806032/

Abstract

Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. Thus, we concluded that the variant was the genetic cause of the patient's agenesis.

摘要

先天性牙齿缺失是由与牙齿发育相关的关键基因受损引起的，如Wnt信号通路基因。在此，我们研究了散发性先天性牙齿缺失的遗传原因。外显子组测序，随后进行桑格测序，在WNT10A基因中发现了一个新的单核苷酸缺失（NC_000002.12(NM_025216.3):c.802del），该缺失在患者的健康父母中未发现。因此，我们得出结论，该变异是患者牙齿缺失的遗传原因。