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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

dc.rights.licenseopenen_US
hal.structure.identifierCentre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
dc.contributor.authorMORENO-ARTERO, Ester
hal.structure.identifierBoRdeaux Institute in onCology [Inserm U1312 - BRIC]
dc.contributor.authorMORICE-PICARD, Fanny
hal.structure.identifierService de génétique médicale
dc.contributor.authorLASSEAUX, Eulalie
hal.structure.identifierHôpital Necker - Enfants Malades [AP-HP]
hal.structure.identifierCB - Centre Borelli - UMR 9010 [CB]
dc.contributor.authorROBERT, Matthieu P
hal.structure.identifierCHU Bordeaux
dc.contributor.authorCOSTE, Valentine
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
IDREF: 243713878
hal.structure.identifierCentre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
dc.contributor.authorLECLERC-MERCIER, Stephanie
hal.structure.identifierCentre de référence des Maladies Rares en Ophtalmologie [CHU HEGP] [OPHTARA]
hal.structure.identifierCentre de Recherche des Cordeliers [CRC (UMR_S_1138 / U1138)]
dc.contributor.authorBREMOND-GIGNAC, Dominique
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
hal.structure.identifierCentre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
dc.contributor.authorHADJ-RABIA, Smaïl
dc.date.accessioned2023-04-28T09:33:04Z
dc.date.available2023-04-28T09:33:04Z
dc.date.issued2022-11-23
dc.identifier.issn2073-4425en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/173222
dc.description.abstractEnAlbinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but has been reported in all populations, including Europeans. Little is known about the genotype-phenotype correlation. We identified two main phenotypes via the analysis of 30 OCA4 patients with a molecularly proven diagnosis. The first, found in 20 patients, is clinically indistinguishable from the classical OCA1 phenotype. The genotype-to-phenotype correlation suggests that this phenotype is associated with homozygous or compound heterozygous nonsense or deletion variants with frameshift leading to translation interruption in the gene. The second phenotype, found in 10 patients, is characterized by very mild hypopigmentation of the hair (light brown or even dark hair) and skin that is similar to the general population. In this group, visual acuity is variable, but it can be subnormal, foveal hypoplasia can be low grade or even normal, and nystagmus may be lacking. These mild to moderate phenotypes are associated with at least one missense mutation in .
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enOculo-cutaneous albinism
dc.subject.enOCA4
dc.subject.enSLC45A2
dc.subject.enHypopigmentation
dc.subject.enGenetics
dc.subject.enFoveal hypoplasia
dc.title.enOculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
dc.title.alternativeGenes (Basel)en_US
dc.typeArticle de revueen_US
dc.identifier.doi10.3390/genes13122198en_US
dc.identifier.pubmed36553465en_US
bordeaux.journalGenesen_US
bordeaux.volume13en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue12en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
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dc.rights.ccCC BYen_US
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