Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
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.
Bachli
Esther B
EB
Department of Medicine, University Hospital Zürich, Raemistrasse 100, 8091 Zürich, Switzerland. esther.baechli@usz.ch
Brack
Thomas
T
Eppler
Elisabeth
E
Stallmach
Thomas
T
Trüeb
Ralph M
RM
Huizing
Marjan
M
Gahl
William A
WA
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
D020662:Guanine Nucleotide Exchange Factors; C451752:HPS4 protein, human; D011506:Proteins