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Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Pigment cell & melanoma research - 1 Jan 2017

Michaud Vincent, Lasseaux Eulalie, Plaisant Claudio, Verloes Alain, Perdomo-Trujillo Yaumara, Hamel Christian, Elcioglu Nursel H, Leroy Bart, Kaplan Josseline, Jouk Pierre-Simon, Lacombe Didier, Fergelot Patricia, Morice-Picard Fanny, Arveiler Benoit

Abstract excerpt

Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosome-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the biogenesis of lysosome-related...

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Identifiers

PMID: 28640947
DOI: 10.1111/pcmr.12608

Genes

HPS3
HPS5
HPS6

Provenance

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