OA1 mutations and deletions in X-linked ocular albinism

Rhonda E. Schnur, Mei Gao, Penelope A. Wick, Margaret Keller, Paul J. Benke, Matthew J. Edwards, Arthur W. Grix, Athel Hockey, Jack H. Jung, Kenneth K. Kidd, Mildred Kistenmacher, Alex V. Levin, Richard A. Lewis, Maria A. Musarella, Rod W. Nowakowski, Seth J. Orlow, Roberta S. Pagon, De Ann M. Pillers, Hope H. Punnett, Graham E. QuinnKamer Tezcan, Joseph Wagstaff, Richard G. Weleber

Research output: Contribution to journalArticle

51 Scopus citations

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 (~90%) of 29 probands had detectable alterations of OA1, thus confirming that OA1 is the major locus for X-linked OA.

Original languageEnglish (US)
Pages (from-to)800-809
Number of pages10
JournalAmerican Journal of Human Genetics
Volume62
Issue number4
DOIs
StatePublished - Apr 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Schnur, R. E., Gao, M., Wick, P. A., Keller, M., Benke, P. J., Edwards, M. J., Grix, A. W., Hockey, A., Jung, J. H., Kidd, K. K., Kistenmacher, M., Levin, A. V., Lewis, R. A., Musarella, M. A., Nowakowski, R. W., Orlow, S. J., Pagon, R. S., Pillers, D. A. M., Punnett, H. H., ... Weleber, R. G. (1998). OA1 mutations and deletions in X-linked ocular albinism. American Journal of Human Genetics, 62(4), 800-809. https://doi.org/10.1086/301776