We present a 75-year old Korean female patient harboring novel hemizygous variant mutation in glucosidase beta acid (GBA) gene, who was diagnosed with splenic marginal zone cell lymphoma and Gaucher disease (GD) concurrently. Our case is significant in that (1) it delivers the message that GD can occur at any age regardless of ethnicity and (2) we report a novel variant of pathogenic GBA mutation, and the fact that the patient harbored hemizygous mutation.

中文翻译：

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戈谢病 1 型：一名 75 岁患者出现脾肿大的意外诊断

我们介绍了一名 75 岁的韩国女性患者，该患者在葡萄糖苷酶 β 酸 (GBA) 基因中具有新的半合子变异突变，她同时被诊断为脾边缘区细胞淋巴瘤和戈谢病 (GD)。我们的案例很重要，因为（1）它传达了 GD 可以发生在任何年龄的信息，无论种族如何，（2）我们报告了致病性 GBA 突变的新变体，以及患者携带半合子突变的事实。