title: Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis. Six human genes HPS1, ADB3A, HPS3, HPS4, HPS5, and HPS6 have been identified as cause of the six known subtypes of HPS. While there exist nearly 500 Puerto Rican and non-Puerto Rican HPS-1 patients, very few HPS-4 patients have been reported, and most of these have not been described in detail. We now delineate the clinical characteristics of an HPS-4 patient homozygous for a novel HPS-4 mutation, P685delC. The patient, the first individual with HPS reported from Sri Lanka, had severe pulmonary fibrosis, typical of HPS-1 disease, without granulomatous colitis. We conclude that pulmonary fibrosis occurs as part of HPS-4 and that HPS should be considered in all ethnic groups.
authors.affiliation: Department of Medicine, University Hospital Zürich, Raemistrasse 100, 8091 Zürich, Switzerland. esther.baechli@usz.ch
authors.forename: Esther B
authors.initials: EB
authors.lastname: Bachli
authors.forename: Thomas
authors.initials: T
authors.lastname: Brack
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Eppler
authors.forename: Thomas
authors.initials: T
authors.lastname: Stallmach
authors.forename: Ralph M
authors.initials: RM
authors.lastname: Trüeb
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D001792:Blood Platelets / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D005808:Genes, Recessive / Q000235:genetics; D020662:Guanine Nucleotide Exchange Factors; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics* / Q000503:physiopathology; D006652:Histological Techniques; D006801:Humans; D008168:Lung / Q000473:pathology; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D010981:Platelet Storage Pool Deficiency / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011658:Pulmonary Fibrosis / Q000235:genetics*; D012867:Skin / Q000473:pathology; D013188:Sri Lanka; D014057:Tomography, X-Ray Computed
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C451752:HPS4 protein, human; D011506:Proteins