Oculocutaneous albinism

Orphanet Journal of Rare Diseases

Volumn 2, Issue 1, 2007, Pages

  Grønskov, Karen ^a   Ek, Jakob ^a   Brondum Nielsen, Karen ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DIFFERENTIAL DIAGNOSIS; HUMAN; OCULAR ALBINISM; PREVALENCE; REVIEW;

ALBINISM, OCULOCUTANEOUS; DIAGNOSIS, DIFFERENTIAL; HUMANS; PREVALENCE;

EID: 38349160512     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-2-43     Document Type: Article

References (49)

1. Witkop CJ: Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci 1979, 16:327-330.
2. Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet 1994, 3:2047-2051.
3. King RA, Hearing VJ, Creel DJ, Oetting WS: Albinism. In The Metabolic and Molecular bases of inherited Disease Edited by: Scriver CR, Beaudet AL, Sly WS and Valle D. New York, McGraw-Hill, Inc.; 1995:4353-4392.
4. Oetting WS, King RA: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 1999, 13:99-115.
5. Kromberg JG, Jenkins T: Prevalence of albinism in the South African negro. S Afr Med J 1982, 61:383-386.
6. Rooryck C, Roudaut C, Robini E, MusebeckJ, Arveiler B: Oculocutaneous albinism with TYRPI gene mutations in a Caucasian patient. Pigment Cell Research 2006, 19:239-242.
7. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH: Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 2001, 69:981-988.
8. Rundshagen U, Zuhlke C, Opitz S, Schwinger E, Kasmann-Kellner B: Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat 2004, 23:106-110.
9. Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tadaj, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y: Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet 2004, 74:466-471.
10. King RA, Summers CG: Albinism. Dermatol Clin 1988, 6:217-228.
11. Creel D, O'Donnell FE Jr., Witkop CJ Jr.: Visual system anomalies in human ocular albinos. Science 1978, 201:931-933.
12. Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI: Evoked potential analysis of visual pathways in human albinism. Ophthalmology 1994, 101:309-314.
13. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S: Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989, 164:990-996.
14. Kwon BS, Haq AK, Pomerantz SH, Halaban R: Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Prac Natl Acad Sci U S A 1987, 84:7473-7477.
15. Cooksey CJ, Garratt PJ, Land EJ, Pavel S, Ramsden CA, Riley PA, Smit NP: Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. J Biol Chem 1997, 272:26226-26235.
16. The Human Gene Mutation Database at the Institute Medical Genetics in Cardiff: [http://www.hgmd.org/]. 2007.
17. Toyofuku K, Wada I, Valencia JC, Kushimoto T, Ferrans VJ, Hearing VJ: Oculocutaneous albinism types I and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. FASEB J 2001, 15:2149-2161.
18. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD: A gene for the mouse pinkeyed dilution locus and for human type II oculocutaneous albinism. Nature 1993, 361:72-76.
19. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA: Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 1995, 26:354-363.
20. Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ: Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A 1994, 91:12071-12075.
21. Orlow SJ, Brilliant MH: The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res 1999, 68:147-154.
22. Rosemblat S, Sviderskaya EV, Easty DJ, Wilson A, Kwon BS, Bennett DC, Orlow SJ: Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine. Exp Cell Res 1998, 239:344-352.
23. Puri N, Gardner JM, Brilliant MH: Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol 2000, 115:607-613.
24. Manga P, Boissy RE, Pifko-Hirst S, Zhou BK, Orlow SJ: Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. Exp Eye Res 2001, 72:695-710.
25. Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ: The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res 2002, 15:217-224.
26. Chen K, Manga P, Orlow SJ: Pink-eyed dilution protein controls the processing of tyrosinase. Mol Biol Cell 2002, 13:1953-1964.
27. Ni-Komatsu L, Orlow SJ: Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. Exp Eye Res 2006, 82:519-528.
28. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ: Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum Genet 1996, 58:1145-1 156.
29. Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA: Complete sequence and polymorphism study of the human TYRPI gene encoding tyrosinase-related protein I. Mamm Genome 1998, 9:50-53.
30. Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER: Identification of novel TYR and TYRPI mutations in oculocutaneous albinism. Clin Genet 2005, 68:182-184.
31. Fukamachi S, Shimada A, Shima A: Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Not Genet 2001, 28:381 -385.
32. Harada M, Li YF, El Gamil M, Rosenberg SA, Robbins PF: Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201 -restricted T cells. Cancer Res 2001, 61:1089-1094.
33. Inagaki K, Suzuki T, Ito S, Suzuki N, Adachi K, Okuyama T, Nakata Y, Shimizu H, Matsuura H, Oono T, Iwamatsu H, Kono M, Tomita Y: Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res 2006, 19:451-453.
34. Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y: A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. British Journal of Dermatology 2005, 152:174-175.
35. Chaki M, Mukhopadhyay A, Ray K: Determination of variants in the 3-region of the tyrosinase gene requires locus specific amplification. Hum Mutat 2005, 26:53-58.
36. Fassihi H, Eady RA, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Denyer JE, Nicolaides KH, Rodeck CH, McGrath JA: Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Sr J Dermatol 2006, 154:106-113.
37. Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A: Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. Pediatr Dev Pathol 1999, 2:404-414.
38. O'Donnell FE Jr., Hambrick GWJr., Green WR, Iliff WJ, Stone DL: X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Arch Ophthalmol 1976, 94:1883-1892.
39. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A: Cloning of the gene for ocular albinism type I from the distal short arm of the X chromosome. Not Genet 1995, 10:13-19.
40. Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994, 330:529-534.
41. Hermansky F, Pudlak P: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959, 14:162-169.
42. DePinho RA, Kaplan KL: The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. Medicine (Baltimore) 1985, 64:192-202.
43. Witkop CJ, Nunez BM, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA,.: Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 1990, 82:333-339.
44. Dimson O, Drolet BA, Esterly NB: Hermansky-Pudlak syndrome. Pediatr Dermatol 1999, 16:475-477.
45. Chediak MM: [New leukocyte anomaly of constitutional and familial character.]. Rev Hematol 1952, 7:362-367.
46. Fukai K, lshii M, Kadoya A, Chanoki M, Hamada T: Chediak-Higashi syndrome: report of a case and review of the Japanese literature. J Dermatol 1993, 20:231-237.
47. Mancini AJ, Chan LS, Palier AS: Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 1998, 38:295-300.
48. Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. AmJ Hum Genet 1951, 3:195-253.
49. Kushimoto T, Valencia JC, Costin GE, Toyofuku K, Watabe H, Yasumoto K, Rouzaud F, Vieira WD, Hearing VJ: The Seiji memorial lecture: the melanosome: an ideal model to study cellular differentiation. Pigment Cell Res 2003, 16:237-244.