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 Weleber

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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

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Ocular Albinism
Sequence Deletion
Exons
RNA Splice Sites
Mutation
Nonsense Codon
Melanins
Gene Deletion
Pigmentation
Missense Mutation
Visual Acuity
Biopsy
Skin

ASJC Scopus subject areas

  • Genetics

Cite this

Schnur, R. E., Gao, M., Wick, P. A., Keller, M., Benke, P. J., Edwards, M. J., ... Weleber, R. (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

OA1 mutations and deletions in X-linked ocular albinism. / Schnur, Rhonda E.; Gao, Mei; Wick, Penelope A.; Keller, Margaret; Benke, Paul J.; Edwards, Matthew J.; Grix, Arthur W.; Hockey, Athel; Jung, Jack H.; Kidd, Kenneth K.; Kistenmacher, Mildred; Levin, Alex V.; Lewis, Richard A.; Musarella, Maria A.; Nowakowski, Rod W.; Orlow, Seth J.; Pagon, Roberta S.; Pillers, De Ann M; Punnett, Hope H.; Quinn, Graham E.; Tezcan, Kamer; Wagstaff, Joseph; Weleber, Richard.

In: American Journal of Human Genetics, Vol. 62, No. 4, 04.1998, p. 800-809.

Research output: Contribution to journalArticle

Schnur, RE, Gao, M, Wick, PA, Keller, M, Benke, PJ, Edwards, MJ, Grix, AW, Hockey, A, Jung, JH, Kidd, KK, Kistenmacher, M, Levin, AV, Lewis, RA, Musarella, MA, Nowakowski, RW, Orlow, SJ, Pagon, RS, Pillers, DAM, Punnett, HH, Quinn, GE, Tezcan, K, Wagstaff, J & Weleber, R 1998, 'OA1 mutations and deletions in X-linked ocular albinism', American Journal of Human Genetics, vol. 62, no. 4, pp. 800-809. https://doi.org/10.1086/301776
Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ et al. OA1 mutations and deletions in X-linked ocular albinism. American Journal of Human Genetics. 1998 Apr;62(4):800-809. https://doi.org/10.1086/301776
Schnur, Rhonda E. ; Gao, Mei ; Wick, Penelope A. ; Keller, Margaret ; Benke, Paul J. ; Edwards, Matthew J. ; Grix, Arthur W. ; Hockey, Athel ; Jung, Jack H. ; Kidd, Kenneth K. ; Kistenmacher, Mildred ; Levin, Alex V. ; Lewis, Richard A. ; Musarella, Maria A. ; Nowakowski, Rod W. ; Orlow, Seth J. ; Pagon, Roberta S. ; Pillers, De Ann M ; Punnett, Hope H. ; Quinn, Graham E. ; Tezcan, Kamer ; Wagstaff, Joseph ; Weleber, Richard. / OA1 mutations and deletions in X-linked ocular albinism. In: American Journal of Human Genetics. 1998 ; Vol. 62, No. 4. pp. 800-809.
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