Hermansky-Pudlak syndrome: A clinicopathologic study

Schinella, Roger; Greco, M. Alba; Garay, Stuart M.; Lackner, Henriette; Wolman, Sandra R.; Fazzini, Enrico

doi:10.1016/s0046-8177(85)80230-6

Cited by 45 publications

(29 citation statements)

References 26 publications

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“…Carefully conducted platelet aggregation tests will usually elicit an abnormal response, with platelet-rich plasma from HPS patients. However, we have noted exceptions in five instances on initial testing, as have others [13]. Only after repeated testing was an abnormal response elicited in these individuals.…”

Section: Introductionsupporting

confidence: 60%

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome

et al. 1987

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The clinical, pigmentary, and ceroid storage manifestations of the Hermansky-Pudlak syndrome (HPS) triad of albinism, hemorrhagic diathesis, and ceroid storage disease are variable. Therefore, a rapid and accurate method of diagnosing HPS is needed. Platelets of 66 albinos were examined by electron microscopy for the presence or absence of dense bodies. Results show that patients reexamined over a period of 1 year had consistent findings. Those lacking dense bodies (15) when first examined also lacked dense bodies when reexamined a year later, and they had evidence of ceroid storage. Those with dense bodies when first examined (8) also had dense bodies when reexamined, did not have evidence of storage disease, and had types of albinism other than HPS. Of 20 propositi lacking dense bodies, all 32 albino relatives also lacked dense bodies, while 6 albino relatives of 6 propositi with dense bodies also had dense bodies in their platelets. The evidence supports the concept that HPS is a distinct genetic and biochemical disease in which the components of the triad are the result of a single genetic defect, either a point mutation or a small deletion. Comparison of whole mount preparations with thin section preparations of 13 albinos shows that whole mount preparations are an accurate and rapid method for diagnosing HPS. The most consistent diagnostic feature of HPS is lack of platelet dense bodies.

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Section: Introductionsupporting

confidence: 60%

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome

et al. 1987

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“…After determining that the mouse homologue of HPS was ep, we reexamined the phenotype of two cell types (melanocytes and platelets) known to be affected by HPS (36)(37)(38). Abnormally large melanosomes (macromelanosomes) were observed in choroidal melanocytes, and aberrantly shaped, incompletely melanized melanosomes were observed in the pigmented retinal epithelium (Fig.…”

Section: Resultsmentioning

confidence: 99%

The mouse pale ear ( ep ) mutation is the homologue of human Hermansky–Pudlak syndrome

Gardner

Wildenberg

Keiper

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

134

111

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The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels. Sequence analysis of the mutant ep gene revealed the insertion of an intracisternal A particle element in a protein-coding 3 exon. Here we demonstrate that mice with the ep mutation exhibit abnormalities similar to human HPS patients in melanosomes and platelet-dense granules. These results establish an animal model of HPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles.

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“…While both HPS and neuronal ceroid lipofucinosis patients display ceroid deposits, the deposits are not ultrastructurally equivalent (Schinella et al, 1985;Witkop et al, 1988). Also, the progressive neurological manifestations of this disorder have not been reported in HPS patients.…”

Section: Related Syndromesmentioning

confidence: 99%

Mouse Models of Hermansky Pudlak Syndrome: A Review

Swank

Novak

McGarry

et al. 1998

Pigment Cell Research

185

219

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Hermansky Pudlak Syndrome (HPS) is a recessively inherited disease affecting the contents and/or the secretion of several related subcellular organelles including melanosomes, lysosomes, and platelet dense granules. It presents with disorders of pigmentation, prolonged bleeding, and ceroid deposition, often accompanied by severe fibrotic lung disease and colitis. In the mouse, the disorder is clearly multigenic, caused by at least 14 distinct mutations. Studies on the mouse mutants have defined the granule abnormalities of HPS and have shown that the disease is associated with a surprising variety of phenotypes affecting many tissues. This is an exciting time in HPS research because of the recent molecular identification of the gene causing a major form of human HPS and the expected identifications of several mouse HPS genes. Identifications of mouse HPS genes are expected to increase our understanding of intracellular vesicle trafficking, lead to discovery of new human HPS genes, and suggest diagnostic and therapeutic approaches toward the more severe clinical consequences of the disease.

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Hermansky-Pudlak syndrome: A clinicopathologic study

Cited by 45 publications

References 26 publications

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome

The mouse pale ear ( ep ) mutation is the homologue of human Hermansky–Pudlak syndrome

Mouse Models of Hermansky Pudlak Syndrome: A Review

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