OA1 mutations and deletions in X-linked ocular albinism
| Autor: | Joseph Wagstaff, Athel Hockey, Paul J. Benke, De-Ann M. Pillers, Mildred L. Kistenmacher, Seth J. Orlow, Arthur W. Grix, Rhonda E. Schnur, Graham E. Quinn, Roberta S. Pagon, Matthew S. Edwards, Hope H. Punnett, Maria A. Musarella, Mei Gao, Kenneth K. Kidd, Kamer Tezcan, Margaret Keller, Alex V. Levin, Jack H. Jung, Richard G. Weleber, Rod W. Nowakowski, Richard A. Lewis, Penelope A. Wick |
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| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Ocular albinism
Male X Chromosome Genetic Linkage Nonsense mutation DNA Mutational Analysis Prenatal diagnosis Locus (genetics) Biology Gene mutation Exon medicine Genetics Missense mutation Humans Genetics(clinical) Eye Proteins Genetics (clinical) X chromosome Membrane Glycoproteins medicine.disease Albinism Ocular eye diseases Phenotype Mutation Ocular albinism type 1 Female sense organs Sequence Analysis Gene Deletion Genetic counseling Research Article |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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