title: OA1 mutations and deletions in X-linked ocular albinism.
abstract: X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity. Affected males usually demonstrate melanin macroglobules on skin biopsy. We now report results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian X-linked ocular albinism (OA) probands, including five with additional, nonocular phenotypic abnormalities (Schnur et al. 1994). We detected 13 intragenic gene deletions, including 3 of exon 1, 2 of exon 2, 2 of exon 4, and 6 others, which span exons 2-8. Eight new missense mutations were identified, which cluster within exons 1, 2, 3, and 6 in conserved and/or putative transmembrane domains of the protein. There was also a splice acceptor-site mutation, a nonsense mutation, a single base deletion, and a previously reported 17-bp exon 1 deletion. All patients with nonocular phenotypic abnormalities had detectable mutations. In summary, 26 (approximately 90%) of 29 probands had detectable alterations of OA1, thus confirming that OA1 is the major locus for X-linked OA.
authors.affiliation: Division of Genetics, Children's Regional Hospital, Camden, NJ 08103, USA. schnurre@umdnj.edu
authors.forename: R E
authors.initials: RE
authors.lastname: Schnur
authors.forename: M
authors.initials: M
authors.lastname: Gao
authors.forename: P A
authors.initials: PA
authors.lastname: Wick
authors.forename: M
authors.initials: M
authors.lastname: Keller
authors.forename: P J
authors.initials: PJ
authors.lastname: Benke
authors.forename: M J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: A W
authors.initials: AW
authors.lastname: Grix
authors.forename: A
authors.initials: A
authors.lastname: Hockey
authors.forename: J H
authors.initials: JH
authors.lastname: Jung
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
authors.forename: M
authors.initials: M
authors.lastname: Kistenmacher
authors.forename: A V
authors.initials: AV
authors.lastname: Levin
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
authors.forename: R W
authors.initials: RW
authors.lastname: Nowakowski
authors.forename: S J
authors.initials: SJ
authors.lastname: Orlow
authors.forename: R S
authors.initials: RS
authors.lastname: Pagon
authors.forename: D A
authors.initials: DA
authors.lastname: Pillers
authors.forename: H H
authors.initials: HH
authors.lastname: Punnett
authors.forename: G E
authors.initials: GE
authors.lastname: Quinn
authors.forename: K
authors.initials: K
authors.lastname: Tezcan
authors.forename: J
authors.initials: J
authors.lastname: Wagstaff
authors.forename: R G
authors.initials: RG
authors.lastname: Weleber
mesh_terms: D016117:Albinism, Ocular / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D017421:Sequence Analysis; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins