Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

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

Korswagen LA, Huizing M, Simsek S, Janssen JJ, Zweegman S

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

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.

Published 7 March 2008 in Eur J Haematol, 80(4): 356-60.
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