Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

K. Fukai, S. A. Holmes, N. J. Lucchese, V. M. Siu, Richard Weleber, R. E. Schnur, R. A. Spritz

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, Arg402Gln, which results in a tyrosinase polypeptide with reduced thermal stability. In these patients, AROA thus appears to represent a clinically mild form of OCA1, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally.

Original languageEnglish (US)
Pages (from-to)92-95
Number of pages4
JournalNature Genetics
Volume9
Issue number1
StatePublished - 1995

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Ocular Albinism
Monophenol Monooxygenase
Skin Pigmentation
Hair
Alleles
Genes
Pigmentation
Iris
Heterozygote
Fetal Development
Visual Acuity
Retina
Hot Temperature
Peptides

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Fukai, K., Holmes, S. A., Lucchese, N. J., Siu, V. M., Weleber, R., Schnur, R. E., & Spritz, R. A. (1995). Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nature Genetics, 9(1), 92-95.

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. / Fukai, K.; Holmes, S. A.; Lucchese, N. J.; Siu, V. M.; Weleber, Richard; Schnur, R. E.; Spritz, R. A.

In: Nature Genetics, Vol. 9, No. 1, 1995, p. 92-95.

Research output: Contribution to journalArticle

Fukai, K, Holmes, SA, Lucchese, NJ, Siu, VM, Weleber, R, Schnur, RE & Spritz, RA 1995, 'Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism', Nature Genetics, vol. 9, no. 1, pp. 92-95.
Fukai, K. ; Holmes, S. A. ; Lucchese, N. J. ; Siu, V. M. ; Weleber, Richard ; Schnur, R. E. ; Spritz, R. A. / Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. In: Nature Genetics. 1995 ; Vol. 9, No. 1. pp. 92-95.
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