Research Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.
Petrovsky National Research Center of Surgery, Fotieva Street, 10, Moscow 119333, Russia.
Int J Mol Sci. 2024 Oct 19;25(20):11260. doi: 10.3390/ijms252011260.
Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in , , and genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases.
Hermansky-Pudlak 综合征（HPS）是一种以常染色体隐性遗传方式遗传的罕见疾病，包括 11 种临床遗传亚型。它们与溶酶体相关细胞器生物发生复合物（BLOC 蛋白复合物）和衔接蛋白复合物（AP-3 复合物）的亚基功能障碍有关。每种亚型都有其自身的临床特征，但都以白化病、出血性疾病和视觉异常为特征。对 8 个无亲缘关系的家族中 11 名白化病初诊患者进行了检查，发现了 和 基因（HPS1、HPS6 和 HPS9 型）中的新的和以前描述过的遗传变异。为了确定最佳治疗方法并为进一步随访提供建议，有必要考虑到疾病的整个临床谱和遗传多态性。采用多学科方法，结合使用 RNA 分析等非常规诊断技术，对于某些复杂病例的准确诊断至关重要。
