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A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5

Lindy-Anne Korswagen1, Marjan Huizing, Suat Simsek

  • 1Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands. lindyanne_k@yahoo.com

European Journal of Haematology
|January 10, 2008
PubMed

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.

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