ArticleThe Journal of investigative dermatology2006
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
Article in The Journal of investigative dermatology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
31 citing papers in PubMed, 70 citations in OpenAlex.
- Hermansky-Pudlak Syndrome in the United States.Chest · 2025Article
- Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.Dermatology practical & conceptual · 2025Article
- Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.International journal of molecular sciences · 2024Article
- After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.Molecular genetics & genomic medicine · 2024Article
- Genetics of Primary Hemophagocytic Lymphohistiocytosis.Advances in experimental medicine and biology · 2024Review
- The world of rare interstitial lung diseases.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome.JAAD case reports · 2022Article
- Oculocutaneous albinism and bleeding diathesis due to a novel deletion in theFrontiers in genetics · 2022Article
- Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.Respiratory research · 2021Article
- Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.Journal of clinical laboratory analysis · 2021Article
- Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.Frontiers in pharmacology · 2021Review
- Genetic variants associated with Hermansky-Pudlak syndrome.Platelets · 2020Article
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.Scientific reports · 2019Article
- Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.European journal of haematology · 2019Article
- Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.Orphanet journal of rare diseases · 2019Article
- Management of suspected monogenic lung fibrosis in a specialised centre.European respiratory review : an official journal of the European Respiratory Society · 2017Review
- Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Annals of the American Thoracic Society · 2016Review
- Hermansky-Pudlak Syndrome.Clinics in chest medicine · 2016Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequency of approximately 1:1,800. Two HPS genes and mutations have been identified in PR, a 16-base pair (bp) duplication in HPS1 and a 3,904-bp deletion in HPS3. In Puerto Ricans with more typical OCA, the most common mutation of the tyrosinase (TYR) (human tyrosinase (OCA1) gene) gene was G47D. We describe screening 229 Puerto Rican OCA patients for these mutations, and for mutations in the OCA2 gene. We found the HPS1 mutation in 42.8% of cases, the HPS3 deletion in 17%, the TYR G47D mutation in 3.0%, and a 2.4-kb deletion of the OCA2 gene in 1.3%. Among Puerto Rican newborns, the frequency of the HPS1 mutation is highest in northwest PR (1:21; 4.8%) and lower in central PR (1:64; 1.6%). The HPS3 gene deletion is most frequent in central PR (1:32; 3.1%). Our findings provide insights into the genetics of albinism and HPS in PR, and provide the basis for genetic screening for these disorders in this minority population.
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