title: Mutational analysis of the OA1 gene in ocular albinism.
abstract: Ocular albinism type 1 (OA1) is an X-linked disorder, mainly characterized by a severe reduction in visual acuity, foveal hypoplasia, nystagmus, hypopigmentation of the retina, the presence of macromelanosomes in the skin and eyes, and the misrouting of optic pathways, resulting in the loss of stereoscopic vision. We screened the OA1 gene for mutations in three unrelated Canadian and French families and in two isolated patients with OA1. We found three different missense mutations and two different nonsense mutations, three of which were novel. To date, 41 mutations (including missense mutations, insertions, and deletions) have been reported in the OA1 gene. Mutation and polymorphism data for this gene are available from the international albinism center albinism database website: http://www.cbc.umn.edu/tad/oa1map.htm.
authors.affiliation: Centre de Recherches Thérapeutiques en Ophtalmologie, Faculté de Médecine Necker, Université René Descartes and Service d'Ophtalmologie du CHU Necker Enfants Malades, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Camand
authors.forename: Sandrine
authors.initials: S
authors.lastname: Boutboul
authors.forename: Laurence
authors.initials: L
authors.lastname: Arbogast
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.forename: Claude
authors.initials: C
authors.lastname: Sternberg
authors.forename: Joanne
authors.initials: J
authors.lastname: Sutherland
authors.forename: Alex
authors.initials: A
authors.lastname: Levin
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
authors.forename: Maurice
authors.initials: M
authors.lastname: Menasche
authors.forename: Jean
authors.initials: J
authors.lastname: Dufier
authors.forename: Marc
authors.initials: M
authors.lastname: Abitbol
mesh_terms: D016117:Albinism, Ocular / Q000235:genetics* / Q000503:physiopathology; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins