Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
2017
Hermansky-Pudlak syndrome(HPS), first described in 1959, is a rare form of syndromic
oculocutaneous albinismassociated with
bleeding diathesisand in some cases
pulmonary fibrosisand granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related
organelles(LRO) proteins. The
HPS5protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related
OrganellesComplex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory. We report 11 new pathogenic variants. The 11 patients present with ocular features that are typical for
albinism, with mild
hypopigmentation, and with no other major complication, apart from a tendency to bleed. HPS-5 therefore appears as a mild form of HPS, that is often clinically undistinguishable from mild oculocutaneous or ocular forms of
albinism. Molecular analysis is therefore required in order to establish the diagnosis of this mild HPS form, which has consequences in terms of prognosis and of clinical management of the patients. This article is protected by copyright. All rights reserved.
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