Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Fiche publication
Date publication
août 2015
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LIPSKER Dan
Tous les auteurs :
Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C, Lacombe D, Pelletier V, Lipsker D, Perdomo-Trujillo Y, Dollfus H, Arveiler B
Lien Pubmed
Résumé
Oculocutaneous albinism (OCA) is an autosomal recessive disease affecting 1/17,000 person in the general population. It is characterized by hypopigmentation of the skin, hair and eyes. The main handicap in patients is at the ophthalmologic level (nystagmus, reduced visual acuity, photophobia, foveal hypoplasia). There are nowadays 6 known OCA genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, C10ORF11) (OCA1, 2, 3, 4, 6, 7 respectively). An OCA5 locus has been localized, but the gene is not known yet. Apart from the OCA types, an X-linked ocular albinism gene (OA1, GPR143) and 10 genes involved in syndromic forms (Hermansky-Pudlak Syndrome, HPS1-9, and Chediak-Higashi Syndrome, CHS) of albinism have been identified (for a review see Montoliu et al. 2014). This article is protected by copyright. All rights reserved.
Référence
Pigment Cell Melanoma Res. 2015 Aug 6