一名日本乳牙发育不全患者体内 WNT10A 的新型框架移位变异体。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-01-23 DOI:10.1038/s41439-023-00259-4

Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita

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引用次数: 0

摘要

先天性牙齿缺失是由与牙齿发育相关的关键基因（如 Wnt 信号通路基因）受损引起的。在此，我们研究了散发性先天性牙齿缺失的遗传原因。通过外显子组测序和桑格测序，我们在 WNT10A 中发现了一个新的单核苷酸缺失（NC_000002.12(NM_025216.3):c.802del），而在患者健康的父母中却没有发现这种缺失。因此，我们得出结论，该变异是导致患者发育不全的遗传原因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks