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A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5
Author(s) -
Korswagen LindyAnne,
Huizing Marjan,
Simsek Suat,
Janssen Jeroen J.W.M.,
Zweegman Sonja
Publication year - 2008
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2007.01024.x
Subject(s) - hermansky–pudlak syndrome , oculocutaneous albinism , lipofuscin , albinism , lysosome , melanosome , mutation , medicine , genetics , pathology , biology , melanin , gene , pulmonary fibrosis , biochemistry , enzyme , fibrosis
The Hermansky–Pudlak syndrome (HPS) is a rare genetically heterogeneous autosomal recessive disorder, characterized by tyrosinase‐positive oculocutaneous albinism, platelet dysfunction and lysosomal ceroid lipofuscin storage. This is caused by defects in lysosome‐related organelles. In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here.