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.

中文翻译：

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日本牙齿发育不全患者体内出现新的 WNT10A 移码变体

先天性牙齿发育不全是由与牙齿发育相关的关键基因受损引起的，例如Wnt信号通路基因。在这里，我们研究了散发性先天性牙齿发育不全的遗传原因。外显子组测序和桑格测序鉴定出WNT10A中的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，该变异是患者发育不全的遗传原因。