Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

ABSTRACT:

Background

In the last decade, Hermansky-Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to study the biogenesis of lysosome related organelles (LROs). Of the eight human HPS subtypes, only subtypes 1 through 5 are well described.

Aim

To characterise extensively the HPS-6 subtype, caused by defects in HPS6, a subunit of the biogenesis of lysosome related organelles complex-2 (BLOC-2).

Methods

Mutation analysis for the HPS6 gene was performed on DNA from our group of unclassified HPS patients. The clinical phenotype of patients with HPS6 mutations was then carefully ascertained, and their cultured dermal melanocytes were employed for cellular immunofluorescence studies.

Results

Molecular studies showed a variety of mutations in th

SUBMITTER: Huizing M 

PROVIDER: S-EPMC3500784 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature