{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cullinane AR"],"funding":["Intramural NIH HHS"],"pagination":["584-91"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3501949"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(5)"],"pubmed_abstract":["Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes responsible for HPS subtypes 1-6. We identified 38 individuals with no functional mutations, and therefore, we analyzed all eight genes encoding the biogenesis of lysosome-related organelles complex-1 (BLOC-1) proteins in these individuals. Here, we describe the identification of a novel nonsense mutation in BLOC1S3 (HPS-8) in a 6-yr-old Iranian boy. This mutation caused nonsense-mediated decay of BLOC1S3 mRNA and destabilized the BLOC-1 complex. Our patient's melanocytes showed aberrant localization of TYRP1, with increased plasma membrane trafficking. These findings confirm a common cellular defect for HPS patients with defects in BLOC-1 subunits. We identified only two patients with BLOC-1 defects in our cohort, suggesting that other HPS genes remain to be identified."],"journal":["Pigment cell & melanoma research"],"pubmed_title":["A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8."],"pmcid":["PMC3501949"],"funding_grant_id":["ZIA HG000215-10","ZIA HG200322-08"],"pubmed_authors":["Huizing M","Hess RA","Pan J","Gahl WA","White JG","Cullinane AR","Golas G","Curry JA","Carmona-Rivera C"],"additional_accession":[]},"is_claimable":false,"name":"A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.","description":"Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes responsible for HPS subtypes 1-6. We identified 38 individuals with no functional mutations, and therefore, we analyzed all eight genes encoding the biogenesis of lysosome-related organelles complex-1 (BLOC-1) proteins in these individuals. Here, we describe the identification of a novel nonsense mutation in BLOC1S3 (HPS-8) in a 6-yr-old Iranian boy. This mutation caused nonsense-mediated decay of BLOC1S3 mRNA and destabilized the BLOC-1 complex. Our patient's melanocytes showed aberrant localization of TYRP1, with increased plasma membrane trafficking. These findings confirm a common cellular defect for HPS patients with defects in BLOC-1 subunits. We identified only two patients with BLOC-1 defects in our cohort, suggesting that other HPS genes remain to be identified.","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Sep","modification":"2020-11-19T08:27:00Z","creation":"2019-03-27T01:00:43Z"},"accession":"S-EPMC3501949","cross_references":{"pubmed":["22709368"],"doi":["10.1111/j.1755-148X.2012.01029.x","10.1111/j.1755-148x.2012.01029.x"]}}