X-linked ocular albinism: Prevalence and mutations - A national study

European Journal of Human Genetics

Volumn 6, Issue 6, 1998, Pages 570-577

  Rosenberg, Thomas ^a   Schwartz, Marianne ^b  

^a National Eye Clinic for the Visually Impaired Denmark   (Denmark)

^b University of Copenhagen   (Denmark)

Author keywords

Genotype; Ocular albinism; Prevalence; X linked ocular albinism

Indexed keywords

DNA;

AMINO ACID SUBSTITUTION; ARTICLE; DENMARK; FEMALE; GENE MUTATION; HUMAN; INTRON; IRIS; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; OCULAR ALBINISM; PEDIGREE ANALYSIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0032435196     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200226     Document Type: Article

References (28)

1. Kinnear PE, Jay B, Witcop CJ Jr: Albinism. Surv Ophthalmol 1985; 30: 75-101.
2. van Dorp DB: Albinism, or the NOACH syndrome. Clin Genet 1987; 31: 228-242.
3. Charles SJ, Green JS, Grant JW, Yates JRW, Moore AT: Clinical features of affected males with X-linked ocular albinism. Br J Ophthalmol 1993; 77: 222-227.
4. Creel D, O'Donnell FE Jr, Witkop CJ Jr: Visual system anomalies in human ocular albinos. Science 1978; 201: 931-933.
5. Apkarian P, Shallo-Hoffmann J: VEP projections in congenital nystagmus VEP asymmetry in albinism: a comparison study. Invest Ophthalmol Vis Sci 1991; 32: 2653-2661.
6. Waardenburg PJ: On recognizability of latent conductors of universal albinism and of ocular albinism. Ophthalmologica 1948; 115: 126.
7. Ohrt V: Ocular albinism with changes typical of carriers. Br J Ophthalmol 1956; 40: 721-729.
8. Jaeger C, Jay B: X-linked ocular albinism: A family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism. Hum Genet 1981; 56: 299-304.
9. O'Donnell FE Jr: X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Arch Ophthalmol 1976; 94: 1883-1892.
10. O'Donnell FE, Hambrick GW, Green WR, Hiff WJ, Stone DL: X-linked ocular albinism: an oculocutaneous macromelanosomal disorder. Arch Ophthalmol 1976; 94: 1883-1892.
11. Schnur RE, Wick PA, Bailey C et al: Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Am J Hum Genet 1994; 55: 484-496.
12. Charles SJ, Moore AT, Grant JW, Yates JRW: Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye 1992; 6: 75-79.
13. Bergen AAB, Samanns C, Schuurman EJM et al: Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet 1991; 88: 162-166.
14. Charles SJ, Moore AT, Yates JRW: Genetic mapping of X-linked ocular albinism: linkage analysis in British families. J Med Genet 1992; 29: 552-554.
15. Bassi MT, Schiaffino MV, Renieri A et al: Cloning the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 1995; 10: 13-19.
16. Schiaffino MV, Bassi MT, Galli L et al: Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 1995; 4: 2319-2325.
17. Schiaffino MV, Baschirotto C, Pellegrini G et al: The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sd USA 1996; 93: 9055-9060.
18. Rosenberg T: Visual impairment in Danish children 1985. Acta Ophthalmol Copenh 1987; 65: 110-117.
19. Sjödell L, Sjöström A, Abrahamsson M: Transillumination of iris and subnormal visual acuity - ocular albinism?. Br J Ophthalmol 1996; 80: 617-623.
20. Baggesen K, Baggesen N: Pediplot: a computer program for drawing pedigress. Ann Genet 1989; 32: 126-128.
21. Haliassos A, Chomel JC, Tesson L et al: Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 1989; 17: 3606.
22. Warburg M: Ocular albinism and protanopia in the same family. Acta Ophthalmol Copenh 1964; 42: 444-451.
23. Ruse R, Flage T, Hansen E et al: Visual impairment in Nordic children. I. Nordic registers and prevalence data. Acta Ophthalmol Copenh 1992; 70: 145-154.
24. Rosenberg T, Flage T, Hansen E et al: Incidence of registered visual impairment in the Nordic child population. Br J Ophthalmol 1996; 80: 49-53.
25. Rosenberg T, Schwartz M: Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients. Acta Ophthalmol Copenh 1994; 72: 678-682.
26. Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A: Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Res 1996; 6: 880-885.
27. Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992; 90: 41-54.
28. Lind B, van Solingen WW, Schwartz M, Thorsen S: Splice site mutation in the human protein C gene associated with venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis. Blood 1993; 82: 2423-2432.