Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
| dc.rights.license | open | en_US |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | PENNAMEN, Perrine | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | TINGAUD-SEQUEIRA, Angele | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MICHAUD, Vincent
IDREF: 243713878 | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MORICE-PICARD, Fanny | |
| dc.contributor.author | PLAISANT, Claudio | |
| dc.contributor.author | VINCENT-DELORME, Catherine | |
| dc.contributor.author | GIULIANO, Fabienne | |
| dc.contributor.author | AZARNOUSH, Saba | |
| dc.contributor.author | CAPRI, Yline | |
| dc.contributor.author | MARCON, Carolina | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LACOMBE, Didier | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| dc.date.accessioned | 2021-10-26T15:44:16Z | |
| dc.date.available | 2021-10-26T15:44:16Z | |
| dc.date.issued | 2021-01 | |
| dc.identifier.issn | 1755-1471 (print) 1755-148X (online) | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/117090 | |
| dc.description.abstractEn | Hermansky-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.iso | EN | en_US |
| dc.subject.en | Albinism | |
| dc.subject.en | BLOC1S3 | |
| dc.subject.en | Hermansky-Pudlak syndrome | |
| dc.subject.en | HPS-8 | |
| dc.subject.en | Platelet dense granule deficiency | |
| dc.title.en | Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1111/pcmr.12915 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | en_US |
| dc.identifier.pubmed | 32687635 | en_US |
| bordeaux.journal | Pigment Cell & Melanoma research | en_US |
| bordeaux.page | 132-135 | en_US |
| bordeaux.volume | 34 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 1 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-03404633 | |
| hal.version | 1 | |
| hal.date.transferred | 2021-10-26T15:44:20Z | |
| hal.export | true | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_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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