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Functional Characterization of Splice Variants in the Diagnosis of Albinism.

dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDIALLO, Modibo
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorCOURDIER, Cécile
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMERCIER, Elina
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorSEQUEIRA, Angele
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDEFAY-STINAT, Alicia
dc.contributor.authorPLAISANT, Claudio
dc.contributor.authorMESDAGHI, Shahram
dc.contributor.authorRIGDEN, Daniel
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorJAVERZAT, Sophie
hal.structure.identifierService de génétique médicale
hal.structure.identifierService de dermatologie Hôpital Saint-André Bordeaux
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLASSEAUX, Eulalie
dc.contributor.authorBOURGEADE, Laetitia
dc.contributor.authorAUDEBERT-BELLANGER, Séverine
dc.contributor.authorDOLLFUS, Hélène
dc.contributor.authorHADJ-RABIA, Smail
hal.structure.identifierService de dermatologie [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorPHILIBERT, Manon
dc.contributor.authorSIDIBÉ, Mohamed Kole
dc.contributor.authorSMIRNOV, Vasily
dc.contributor.authorSYLLA, Ousmane
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.date.accessioned2024-10-11T12:29:44Z
dc.date.available2024-10-11T12:29:44Z
dc.date.issued2024-08-08
dc.identifier.issn1422-0067en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/202433
dc.description.abstractEnAlbinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic sequences of these genes allows for about a 70% diagnostic rate. About half (15%) of the unsolved cases are heterozygous for one pathogenic or probably pathogenic variant. Assuming that the missing variant may be located in non-coding regions, we performed sequencing for 122 such heterozygous patients of either the whole genome (27 patients) or our NGS panel (95 patients) that includes, in addition to all exons of the 21 genes, the introns and flanking sequences of five genes, , , , and . Rare variants (MAF < 0.01) in to the first variant were tested by RT-PCR and/or minigene assay. Of the 14 variants tested, nine caused either exon skipping or the inclusion of a pseudoexon, allowing for the diagnosis of 11 patients. This represents 9.8% (12/122) supplementary diagnosis for formerly unsolved patients and 75% (12/16) of those in whom the candidate variant was in to the first variant. Of note, one missense variant was demonstrated to cause skipping of the exon in which it is located, thus shedding new light on its pathogenic mechanism. Searching for non-coding variants and testing them for an effect on RNA splicing is warranted in order to increase the diagnostic rate.
dc.description.sponsorshipApproches de génétique moléculaire et fonctionnelle pour déchiffrer les mécanismes physiopathologiques de l'albinisme oculocutané.en_US
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enAlbinism
dc.subject.enSplice variants
dc.subject.enExon skipping
dc.subject.enPseudoexon
dc.subject.enRT-PCR
dc.subject.enMinigene assay
dc.title.enFunctional Characterization of Splice Variants in the Diagnosis of Albinism.
dc.title.alternativeInt J Mol Scien_US
dc.typeArticle de revueen_US
dc.identifier.doi10.3390/ijms25168657en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39201349en_US
bordeaux.journalInternational Journal of Molecular Sciencesen_US
bordeaux.volume25en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue16en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04732542
hal.version1
hal.date.transferred2024-10-11T12:29:48Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=International%20Journal%20of%20Molecular%20Sciences&amp;rft.date=2024-08-08&amp;rft.volume=25&amp;rft.issue=16&amp;rft.eissn=1422-0067&amp;rft.issn=1422-0067&amp;rft.au=DIALLO,%20Modibo&amp;COURDIER,%20C%C3%A9cile&amp;MERCIER,%20Elina&amp;SEQUEIRA,%20Angele&amp;DEFAY-STINAT,%20Alicia&amp;rft.genre=article


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