MORENO-ARTERO, Ester; MORICE-PICARD, Fanny; LASSEAUX, Eulalie; ROBERT, Matthieu P; COSTE, Valentine; MICHAUD, Vincent; LECLERC-MERCIER, Stephanie; BREMOND-GIGNAC, Dominique; ARVEILER, Benoit; HADJ-RABIA, Smaïl

doi:10.3390/genes13122198

MORENO-ARTERO, Ester
Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases [MAGEC]

MORICE-PICARD, Fanny
BoRdeaux Institute in onCology [Inserm U1312 - BRIC]

LASSEAUX, Eulalie
Service de génétique médicale

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Article de revue

Ce document a été publié dans

Genes. 2022-11-23, vol. 13, n° 12

Résumé en anglais

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 .< Réduire

Mots clés en anglais

Oculo-cutaneous albinism

OCA4

SLC45A2

Hypopigmentation

Genetics

Foveal hypoplasia

URI

https://oskar-bordeaux.fr/handle/20.500.12278/173222

DOI

http://dx.doi.org/10.3390/genes13122198

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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

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Résumé en anglais

Mots clés en anglais

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