Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects

Abstract 804 Genetic Basis of Disease 1 Platform, Monday, 5/3

HPS consists of oculocutaneous albinism, a platelet storage-pool deficiency, and ceroid lipofuscinosis. Patients exhibit congenital nystagmus, iris transillumination, impaired visual acuity, hypopigmentation, and a bleeding diathesis. Some individuals have granulomatous colitis, and a progressive, fatal pulmonary fibrosis develops in the fourth or fifth decade. The disorder is common in northwest Puerto Rico, but occurs throughout the world. HPS-1, a gene on chromosome 10q23 known to cause HPS, codes for a 79.3 kD protein of unknown function. Patients from northwest Puerto Rico are homozygous for a 16-bp duplication in exon 15 of HPS-1. The basic defect in HPS is unknown, but 14 mouse models exist with hypopigmentation and a storage pool deficiency.

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