Genotypic spectrum of albinism in Mali
| dc.rights.license | open | en_US |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | DIALLO, Modibo | |
| dc.contributor.author | SYLLA, Ousmane | |
| dc.contributor.author | SIDIBÉ, Mohamed Kole | |
| dc.contributor.author | PLAISANT, Claudio | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MERCIER, Elina | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | SEQUEIRA, Angele | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | JAVERZAT, Sophie
IDREF: 123786355 | |
| dc.contributor.author | HADID, Abdelaziz | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Service de dermatologie Hôpital Saint-André Bordeaux | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | CHU de Bordeaux Pellegrin [Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MICHAUD, Vincent | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| dc.date.accessioned | 2024-08-29T12:27:35Z | |
| dc.date.available | 2024-08-29T12:27:35Z | |
| dc.date.issued | 2024-05-09 | |
| dc.identifier.issn | 1755-148X | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/201350 | |
| dc.description.abstractEn | Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub-Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4. OCA2 variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (two in TYR, two in OCA2). A deep intronic variant was found to alter splicing of the OCA2 RNA by inclusion of a pseudo exon. Of note, the OCA2 exon 7 deletion commonly found in eastern, central, and southern Africa was absent from this series. African patients with OCA 1 and OCA 4 had only been reported twice and once, respectively, in previous publications. This study constitutes the first report of the genotypic spectrum of albinism in a western sub-Saharan country. | |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
| dc.subject.en | Albinism | |
| dc.subject.en | Diagnosis | |
| dc.subject.en | Functional tests | |
| dc.subject.en | Mali | |
| dc.subject.en | Molecular genetics | |
| dc.subject.en | Pigmentation | |
| dc.subject.en | Splice variant | |
| dc.subject.en | Variants | |
| dc.title.en | Genotypic spectrum of albinism in Mali | |
| dc.title.alternative | Pigment Cell Melanoma Res | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1111/pcmr.13175 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 38720644 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-04681209 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-08-29T12:27:39Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY-NC-ND | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.date=2024-05-09&rft.eissn=1755-148X&rft.issn=1755-148X&rft.au=DIALLO,%20Modibo&SYLLA,%20Ousmane&SIDIB%C3%89,%20Mohamed%20Kole&PLAISANT,%20Claudio&MERCIER,%20Elina&rft.genre=article |
