AI Article Synopsis
- Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder with 11 genetic subtypes linked to dysfunction in specific protein complexes, leading to symptoms like albinism, bleeding disorders, and visual impairments.
- A study examined 11 patients from eight families with albinism, discovering both novel and previously identified genetic variants related to HPS1, HPS6, and HPS9.
- To devise effective treatment and follow-up strategies, a comprehensive understanding of the disease's clinical and genetic diversity is crucial, often requiring interdisciplinary methods and advanced diagnostic techniques like RNA analysis.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508982 | PMC |
| http://dx.doi.org/10.3390/ijms252011260 | DOI Listing |
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