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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPENNAMEN, Perrine
dc.contributor.authorLE, Linh
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTINGAUD-SEQUEIRA, Angele
dc.contributor.authorFIORE, Mathieu
dc.contributor.authorBAUTERS, Anne
dc.contributor.authorVAN DUONG BEATRICE, Nguyen
dc.contributor.authorCOSTE, Valentine
dc.contributor.authorBORDET, Jean-Claude
dc.contributor.authorPLAISANT, Claudio
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDIALLO, Modibo
dc.contributor.authorMICHAUD, Vincent
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurélien
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorLASSEAUX, Eulalie
dc.contributor.authorDELEVOYE, Cedric
dc.contributor.authorPICARD, Fanny Morice
dc.contributor.authorDELOBEL, Bruno
dc.contributor.authorMARKS, Michael S
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.date.accessioned2023-01-09T14:12:11Z
dc.date.available2023-01-09T14:12:11Z
dc.date.issued2020-10-01
dc.identifier.issn1530-0366
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/171626
dc.description.abstractEnHermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. We aimed to identify new genes involved in nonsyndromic or syndromic forms of albinism. Two hundred thirty albinism patients lacking a molecular diagnosis of albinism were screened for pathogenic variants in candidate genes with known links to pigmentation or HPS pathophysiology. We identified two unrelated patients with distinct homozygous variants of the BLOC1S5 gene. Patients had mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5 melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele. Mutation of BLOC1S5 is disease-causing, and we propose that BLOC1S5 is the gene for a new form of Hermansky-Pudlak syndrome, HPS-11.
dc.subject.enAlleles
dc.subject.enAnimals
dc.subject.enBlood Platelets
dc.subject.enHermanski-Pudlak Syndrome
dc.subject.enHumans
dc.subject.enMice
dc.subject.enMutation
dc.title.enBLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
dc.title.alternativeGenet Med
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41436-020-0867-5
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologie
dc.identifier.pubmed32565547
bordeaux.journalGenetics in Medicineen_US
bordeaux.page1613-1622
bordeaux.volume22
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue10
bordeaux.institutionUniversité de Bordeaux
bordeaux.institutionINSERM
bordeaux.import.sourcepubmed
hal.identifierhal-03966532
hal.version1
hal.date.transferred2023-02-01T02:32:55Z
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Genetics%20in%20Medicine&rft.date=2020-10-01&rft.volume=22&rft.issue=10&rft.spage=1613-1622&rft.epage=1613-1622&rft.eissn=1530-0366&rft.issn=1530-0366&rft.au=PENNAMEN,%20Perrine&LE,%20Linh&TINGAUD-SEQUEIRA,%20Angele&FIORE,%20Mathieu&BAUTERS,%20Anne&rft.genre=article


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