New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

Human Mutation

Volumn 19, Issue 2, 2002, Pages 85-92

  Oetting, William S ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Albinism, X linked; Mutation analysis; OA1; Ocular albinism

Indexed keywords

G PROTEIN COUPLED RECEPTOR; MEMBRANE PROTEIN; VISUAL PIGMENT;

ALU SEQUENCE; CHROMOSOME XP; CROSSING OVER; DNA POLYMORPHISM; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOPIGMENTATION; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OA1 GENE; OCULAR ALBINISM; PRIORITY JOURNAL; RETINA FOVEA; REVIEW; STRABISMUS; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE;

ALBINISM, OCULAR; DATABASES, NUCLEIC ACID; EXONS; EYE PROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; RNA SPLICE SITES;

EID: 0036162139     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10034     Document Type: Review

References (51)

1. Recommendations for a nomenclature system for human gene mutations
2. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
3. Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: Sequence, genomic structure, and expression analysis in pigment cells
4. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
5. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
6. Refinement of the localization of the X-linked ocular albinism gene
7. Protein misfolding and degradation in genetic diseases
8. Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor
9. Fundal findings in a female carrier of X-linked ocular albinism
10. Genetic counseling in X-linked ocular albinism. Clinical features of the carrier state
11. Clinical features of affected males with X-linked ocular albinism
12. X-linked ocular albinism: Relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers
13. Visual system anomalies in human ocular albinos
14. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
15. Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote
16. Measurable linkage between ocular albinism and Xg
17. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
18. Macromelanosomes in X-linked ocular albinism
19. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
20. Oal knock-out: New insights on the pathogenesis of ocular albinism type 1
21. X-Linked ocular albinism: A family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism
22. Albinism
23. Clinical and molecular characterization of a family affected with X- linked ocular albinism (OA1)
24. X-linked ocular albinism: Characteristic pattern of affection in female carriers
25. On some hereditary diseases of the eye
26. Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene
27. X-Linked ocular albinism: An oculocutaneous macromelanosomal disorder
28. X-linked ocular albinism in blacks
29. Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males
30. The eye in albinism
31. Ocular albinism with changes typical of carriers
32. Ocular albinism and Xg
33. Nystagmus in a female carrier of ocular albinism
34. Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells
35. X-linked ocular albinism: Prevalence and mutations - A national study
36. X-linked ocular albinism (Nettleship-Falls): A novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis
37. The mouse ocular albinism 1 gene product is an endolysosomal protein
38. A high resolution deletion map of human chromosome Xp22
39. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
40. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes
41. Ocular albinism: Evidence for a defect in an intracellular signal transduction system
42. Linkage analysis in X-linked ocular albinism
43. Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes
44. OA1 mutations and deletions in X-linked ocular albinism
45. Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: Consequences of disease-causing mutations and implications for melanosome biogenesis
46. Ocular albinism type 1: More than meets the eye
47. Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium
48. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene
49. The molecular basis of oculocutaneous albinism type 1 (OCA1): Sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation
50. X-linked inheritance of ocular albinism with late-onset sensorineural deafness
51. X-linked ocular albinism and sensorineural deafness: Linkage to Xp22.3