Premium
Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
Author(s) -
Bachli Esther B.,
Brack Thomas,
Eppler Elisabeth,
Stallmach Thomas,
Trüeb Ralph M.,
Huizing Marjan,
Gahl William A.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20683
Subject(s) - hermansky–pudlak syndrome , oculocutaneous albinism , pulmonary fibrosis , medicine , sri lanka , pathology , albinism , disease , fibrosis , dermatology , biology , genetics , south asia , history , ethnology
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. © 2004 Wiley‐Liss, Inc.