ArticleThe Journal of investigative dermatology2011
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Article in The Journal of investigative dermatology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 42 citations in OpenAlex.
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.FEBS letters · 2025Article
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
- Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene.Genes to cells : devoted to molecular & cellular mechanisms · 2021Article
- Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.Frontiers in pharmacology · 2021Review
- Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.Inflammatory bowel diseases · 2020Review
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.Annals of medicine · 2019Article
- Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.Orphanet journal of rare diseases · 2018Article
- Article
- Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Annals of the American Thoracic Society · 2016Review
- Hermansky-Pudlak Syndrome.Clinics in chest medicine · 2016Review
- Article
- A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.Therapeutic advances in respiratory diseaseReview
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive condition characterized by a bleeding diathesis and hypopigmentation of the skin, hair, and eyes. Some HPS patients develop other complications such as granulomatous colitis and/or fatal pulmonary fibrosis. Eight genes have been associated with this condition, resulting in subtypes HPS-1 through HPS-8. The HPS gene products are involved in the biogenesis of specialized lysosome-related organelles such as melanosomes and platelet delta granules. HPS1 and HPS4 form a stable complex named biogenesis of lysosome-related organelles complex (BLOC)-3, and patients with BLOC-3 or AP-3 deficiency develop pulmonary fibrosis. Therefore, it is important to subtype each HPS patient. HPS type 1 (HPS-1) occurs frequently on the island of Puerto Rico because of a founder mutation. Here, we describe seven mutations, six of which, to our knowledge, are previously unreported in the HPS1, HPS4, and HPS5 genes among patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. Our findings demonstrate that the diagnosis of HPS should be considered in Hispanic patients with oculocutaneous albinism and bleeding symptoms. Moreover, such patients should not be assumed to have the HPS-1 subtype typical of northwest Puerto Rican patients. We recommend molecular HPS subtyping in such cases, as it may have significant implications for prognosis and intervention.
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