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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
MORENO-ARTERO, Ester
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
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Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
MORENO-ARTERO, Ester
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
MICHAUD, Vincent
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
LECLERC-MERCIER, Stephanie
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
BREMOND-GIGNAC, Dominique
Centre de référence des Maladies Rares en Ophtalmologie [CHU HEGP] [OPHTARA]
Centre de Recherche des Cordeliers [CRC (UMR_S_1138 / U1138)]
Centre de référence des Maladies Rares en Ophtalmologie [CHU HEGP] [OPHTARA]
Centre de Recherche des Cordeliers [CRC (UMR_S_1138 / U1138)]
ARVEILER, Benoit
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
HADJ-RABIA, Smaïl
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
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Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]
Idioma
EN
Article de revue
Este ítem está publicado en
Genes. 2022-11-23, vol. 13, n° 12
Resumen en inglés
Albinism 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. ...Leer más >
Albinism 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 .< Leer menos
Palabras clave en inglés
Oculo-cutaneous albinism
OCA4
SLC45A2
Hypopigmentation
Genetics
Foveal hypoplasia
Centros de investigación