ArticleAmerican journal of human genetics1997
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 62 citations in OpenAlex.
- Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.FEBS letters · 2025Article
- Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.Respiratory research · 2021Article
- Article
- A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).Biochimica et biophysica acta · 2013Article
- Hermansky-Pudlak syndrome in two African-American brothers.American journal of medical genetics. Part A · 2009Article
- Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.Human genetics · 2003Article
- Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.Human genetics · 2003Article
- Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.American journal of human genetics · 2001Article
- AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.Molecular biology of the cell · 2001Article
- Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3beta adaptin gene ruby.Genetics · 2000Article
- Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.American journal of human genetics · 1998Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hermansky-Pudlak syndrome (HPS) consists of ocu-locutaneous albinism, a platelet storage-pool deficiency, and ceroid lipofuscinosis. In a recent report on the cloning of an HPS gene, all 22 Puerto Rican HPS patients were homozygous for a 16-bp duplication in exon 15. This presumably reflected a founder effect for the HPS mutation in Puerto Rico. Nevertheless, we ascertained two individuals from central Puerto Rico who lacked the 16-bp duplication, exhibited significant amounts of normal-size HPS mRNA by northern blot analysis, and had haplotypes in the HPS region that were different from the haplotype of every 16-bp-duplication patient. Moreover, these two individuals displayed no mutations in their cDNA sequences, throughout the entire HPS gene. Both patients exhibited pigment dilution, impaired visual acuity, nystagmus, a bleeding diathesis, and absent platelet dense bodies, confirming the diagnosis of HPS. These findings indicate that analysis of Puerto Rican patients for the 16-bp duplication in HPS cannot exclude the diagnosis of HPS. In addition, HPS most likely displays locus heterogeneity, consistent with the existence of several mouse strains manifesting both pigment dilution and a platelet storage-pool deficiency.
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