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dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPENNAMEN, Perrine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTINGAUD-SEQUEIRA, Angele
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorPLAISANT, Claudio
dc.contributor.authorVINCENT-DELORME, Catherine
dc.contributor.authorGIULIANO, Fabienne
dc.contributor.authorAZARNOUSH, Saba
dc.contributor.authorCAPRI, Yline
dc.contributor.authorMARCON, Carolina
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorLASSEAUX, Eulalie
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.date.accessioned2021-10-26T15:44:16Z
dc.date.available2021-10-26T15:44:16Z
dc.date.issued2021-01
dc.identifier.issn1755-1471 (print) 1755-148X (online)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/117090
dc.description.abstractEnHermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including platelet dense granules anomalies leading to bleeding diathesis and, depending on the form, pulmonary fibrosis, immunodeficiency, and/or granulomatous colitis. So far, 11 forms of autosomal recessive HPS caused by pathogenic variants in 11 different genes have been reported. We describe three HPS-8 consanguineous families with different homozygous pathogenic variants in BLOC1S3 (NM_212550.3), one of which is novel. These comprise two deletions leading to a reading frameshift (c.385_403del, c.338_341del) and one in frame deletion (c.444_467del). All patients have moderate oculocutaneous albinism and bleeding diathesis, but other HPS symptoms are not described. One patient diagnosed with HPS-8 suffered from lymphocyte-predominant Hodgkin lymphoma. The mild severity of HPS-8 is consistent with other HPS forms caused by variants in BLOC-1 complex coding genes (HPS-7, DTNBP1; HPS-9, BLOC1S6, HPS-11, BLOC1S5).
dc.language.isoENen_US
dc.subject.enAlbinism
dc.subject.enBLOC1S3
dc.subject.enHermansky-Pudlak syndrome
dc.subject.enHPS-8
dc.subject.enPlatelet dense granule deficiency
dc.title.enNovel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/pcmr.12915en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed32687635en_US
bordeaux.journalPigment Cell & Melanoma researchen_US
bordeaux.page132-135en_US
bordeaux.volume34en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03404633
hal.version1
hal.date.transferred2021-10-26T15:44:20Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Pigment%20Cell%20&%20Melanoma%20research&rft.date=2021-01&rft.volume=34&rft.issue=1&rft.spage=132-135&rft.epage=132-135&rft.eissn=1755-1471%20(print)%201755-148X%20(online)&rft.issn=1755-1471%20(print)%201755-148X%20(online)&rft.au=PENNAMEN,%20Perrine&TINGAUD-SEQUEIRA,%20Angele&MICHAUD,%20Vincent&MORICE-PICARD,%20Fanny&PLAISANT,%20Claudio&rft.genre=article


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