Hermansky–Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including platelet dense granules anomalies leading to bleeding diathesis and, depending on the form, pulmonary fibrosis, immunodeficiency, and/or granulomatous colitis. So far, 11 forms of autosomal recessive HPS caused by pathogenic variants in 11 different genes have been reported. We describe three HPS‐8 consanguineous families with different homozygous pathogenic variants in BLOC1S3 (NM_212550.3), one of which is novel. These comprise two deletions leading to a reading frameshift (c.385_403del, c.338_341del) and one in frame deletion (c.444_467del). All patients have moderate oculocutaneous albinism and bleeding diathesis, but other HPS symptoms are not described. One patient diagnosed with HPS‐8 suffered from lymphocyte‐predominant Hodgkin lymphoma. The mild severity of HPS‐8 is consistent with other HPS forms caused by variants in BLOC‐1 complex coding genes (HPS‐7, DTNBP1; HPS‐9, BLOC1S6, HPS‐11, BLOC1S5).

中文翻译：

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出现轻度 Hermansky-Pudlak 综合征的患者中 BLOC1S3 基因的新变异。

Hermansky-Pudlak 综合征 (HPS) 与眼皮肤白化病和全身性疾病相关，包括导致出血素质的血小板致密颗粒异常，以及肺纤维化、免疫缺陷和/或肉芽肿性结肠炎，具体取决于形式。迄今为止，已报道了由 11 个不同基因的致病变异引起的 11 种常染色体隐性遗传性 HPS。我们描述了三个在BLOC1S3 中具有不同纯合致病变异的 HPS-8 近亲家族。NM_212550.3)，其中之一是新颖的。这些包括导致阅读移码的两个缺失（c.385_403del、c.338_341del）和一个框架内缺失（c.444_467del）。所有患者均具有中度眼皮肤白化病和出血素质，但未描述其他 HPS 症状。一名诊断为 HPS-8 的患者患有以淋巴细胞为主的霍奇金淋巴瘤。HPS-8 的轻度严重程度与由 BLOC-1 复杂编码基因（HPS-7、DTNBP1；HPS-9、BLOC1S6、 HPS-11、BLOC1S5）中的变异引起的其他 HPS 形式一致。