Albinism in a patient with mutations at both the OA1 and OCA3 loci.

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

https://www.ncbi.nlm.nih.gov/pubmed/26247803

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