Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐psychiatric disturbances. This recessive disease is due to mutation in ATP7B, which codes for an ATPase involved in copper‐transport across the plasma membrane. Molecular diagnosis of WD is positive in approximately 98% of cases. Also, in few cases, WD patients present a single deleterious mutation (heterozygous) or no mutation after sanger and NGS standard sequencing analysis of ATP7B. Therefore, in these problematic WD cases, we hypothesized that deleterious mutations reside in intronic regions of ATP7B.

中文翻译：

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受威尔逊病影响的五个不相关的家族中 ATP7B 中的一个新的深层内含子变异。

威尔逊病是一种常染色体隐性代谢性疾病，由过量的铜积累（尤其是在肝脏和大脑中）引起。这种疾病的主要特征是肝脏疾病，较少见的是神经精神障碍。这种隐性疾病是由于ATP7B突变所致，ATP7B 编码参与铜跨质膜转运的 ATP 酶。大约 98% 的 WD 病例的分子诊断呈阳性。此外，在少数情况下，WD 患者在ATP7B的桑格和 NGS 标准测序分析后出现单个有害突变（杂合）或无突变。因此，在这些有问题的 WD 病例中，我们假设有害突变存在于ATP7B的内含子区域。