A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
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.
Korswagen
Lindy-Anne
LA
Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands. lindyanne_k@yahoo.com
Huizing
Marjan
M
Simsek
Suat
S
Janssen
Jeroen J W M
JJ
Zweegman
Sonja
S
D000328:Adult; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000145:classification / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D014421:Turkey
D002352:Carrier Proteins; C493900:HPS5 protein, human