Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this study, we identified a novel nonsense WNT10A variant, NM_025216.3(WNT10A_v001):c.1090A > T, which produces a C-terminal truncated gene product, p.(Lys364*), in a sporadic form of congenital tooth agenesis. The variant was not found in the healthy parents and thus was considered to cause congenital tooth agenesis in the case.

中文翻译：

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日本非综合征性少牙症病例中的新型 WNT10A 变体

先天性牙齿发育不全是人类最常见的异常之一。牙齿发育涉及许多遗传因素，包括MSX1、PAX9、WNT10A和LRP6。因此，这些基因的突变会导致人类先天性牙齿发育不全。在这项研究中，我们发现了一种新的无义WNT10A变体 NM_025216.3(WNT10A_v001):c.1090A > T，它以散发性先天性牙齿发育不全的形式产生 C 末端截短基因产物 p.(Lys364*) . 该变异未在健康父母中发现，因此被认为是导致该病例先天性牙齿发育不全的原因。