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Disease Database
Albinism
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Recent update from: 26.02.04
MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial
References
- Anikster,Y., Huizing,M., White,J., Shevchenko,Y.O., Fitzpatrick,D.L., Touchman,J.W., Compton,J.G., Bale,S.J., Swank,R.T., Gahl,W.A., and Toro,J.R. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 2001; Nat.Genet. 28: 376-380.
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- Barbosa,M.D., Nguyen,Q.A., Tchernev,V.T., Ashley,J.A., Detter,J.C., Blaydes,S.M., Brandt,S.J., Chotai,D., Hodgman,C., Solari,R.C., Lovett,M., and Kingsmore,S.F. Identification of the homologous beige and Chediak-Higashi syndrome genes. 1996; Nature. 382: 262-265.
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- Bassi,M.T., Renieri,A., De Nigris,F., Galli,L., Bruttini,M., Bergen,A.A.B., Lewis,R.A., Yates,J., Meitinger,T., and Ballabio,A. Genomic structure and mutation analysis of the ocular albinism type 1 (OA1) gene. 1995; Am.J.Hum.Genet. 57: A7
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- Cohen,T., Muller,R.M., Tomita,Y., and Shibahara,S. Nucleotide sequence of the cDNA encoding human tyrosinase- related protein. 1990; Nucleic.Acids.Res. 18: 2807-2808.
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- Dell'Angelica,E.C., Shotelersuk,V., Aguilar,R.C., Gahl,W.A., and Bonifacino,J.S. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 1999; Mol.Cell. 3: 11-21.
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- Fukai,K., Holmes,S.A., Lucchese,N.J., Siu,V.M., Weleber,R.G., Schnur,R.E., and Spritz,R.A. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 1995; Nat.Genet. 9: 92-95.
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- Giebel,L.B., Strunk,K.M., King,R.A., Hanifin,J.M., and Spritz,R.A. A frequent tyrosinase gene mutation in classic, tyrosinase- negative (type IA) oculocutaneous albinism. 1990; Proc.Natl.Acad.Sci.U.S.A. 87: 3255-3258.
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- Huizing,M., Anikster,Y., Fitzpatrick,D.L., Jeong,A.B., D'Souza,M., Rausche,M., Toro,J.R., Kaiser-Kupfer,M.I., White,J.G., and Gahl,W.A. Hermansky-pudlak syndrome type 3 in ashkenazi jews and other non-puerto rican patients with hypopigmentation and platelet storage-pool deficiency. 2001; Am.J.Hum.Genet. 69: 1022-1032.
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- King,R.A., Willaert,R.K., Schmidt,R.M., Pietsch,J., Savage,S., Brott,M.J., Fryer,J.P., Summers,C.G., and Oetting,W.S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). 2003; Am.J.Hum.Genet. 73: 638-645.
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- Li,W., Zhang,Q., Oiso,N., Novak,E.K., Gautam,R., O'Brien,E.P., Tinsley,C.L., Blake,D.J., Spritz,R.A., Copeland,N.G., Jenkins,N.A., Amato,D., Roe,B.A., Starcevic,M., Dell'Angelica,E.C., Elliott,R.W., Mishra,V., Kingsmore,S.F., Paylor,R.E., and Swank,R.T. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 2003; Nat.Genet. 35: 84-89.
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- Manga,P., Kromberg,J.G., Turner,A., Jenkins,T., and Ramsay,M. In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified. 2001; Am.J.Hum.Genet. 68: 782-787.
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- Menasche,G., Pastural,E., Feldmann,J., Certain,S., Ersoy,F., Dupuis,S., Wulffraat,N., Bianchi,D., Fischer,A., Le Deist,F., and de Saint,B.G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 2000; Nat.Genet. 25: 173-176.
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- Nagle,D.L., Karim,M.A., Woolf,E.A., Holmgren,L., Bork,P., Misumi,D.J., McGrail,S.H., Dussault,B.J., Jr., Perou,C.M., Boissy,R.E., Duyk,G.M., Spritz,R.A., and Moore,K.J. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 1996; Nat.Genet. 14: 307-311.
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- Newton,J.M., Cohen-Barak,O., Hagiwara,N., Gardner,J.M., Davisson,M.T., King,R.A., and Brilliant,M.H. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4. 2001; Am.J.Hum.Genet. 69: 981-988.
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- Oh,J., Bailin,T., Fukai,K., Feng,G.H., Ho,L., Mao,J.I., Frenk,E., Tamura,N., and Spritz,R.A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 1996; Nat.Genet. 14: 300-306.
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- Oh,J., Liu,Z.X., Feng,G.H., Raposo,G., and Spritz,R.A. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. 2000; Hum.Mol.Genet. 9: 375-385.
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- Rinchik,E.M., Bultman,S.J., Horsthemke,B., Lee,S.T., Strunk,K.M., Spritz,R.A., Avidano,K.M., Jong,M.T., and Nicholls,R.D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 1993; Nature. 361: 72-76.
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- Rose,N.C., Menacker,S.J., Schnur,R.E., Jackson,L., McDonald McGinn,D.M., Stump,T., Emanuel,B.S., and Zackai,E.H. Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? 1992; Am.J.Med.Genet. 42: 700-705.
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- Rosemblat,S., Durham Pierre,D., Gardner,J.M., Nakatsu,Y., Brilliant,M.H., and Orlow,S.J. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. 1994; Proc.Natl.Acad.Sci.U.S.A. 91: 12071-12075.
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- Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., Denigris,F., Bergen,A.A.B., Charles,S.J., Yates,J.R.W., Meindl,A., Lewis,R.A., King,R.A., Ballabio,A., De Nigris,F., and Yates,J.R. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319-2325.
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- Shiloh,Y., Litvak,G., Ziv,Y., Lehner,T., Sandkuyl,L., Hildesheimer,M., Buchris,V., Cremers,F.P., Szabo,P., and White,B.N. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. 1990; Am.J.Hum.Genet. 47: 20-27.
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- Shotelersuk,V., Hazelwood,S., Larson,D., Iwata,F., Kaiser-Kupfer,M.I., Kuehl,E., Bernardini,I., and Gahl,W.A. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 1998; Mol.Genet Metab. 64: 99-107.
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- Stevens,G., Vanbeukering,J., Jenkins,T., Ramsay,M., and van Beukering,J. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. 1995; Am.J.Hum.Genet. 56: 586-591.
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- Suzuki,T., Li,W., Zhang,Q., Karim,A., Novak,E.K., Sviderskaya,E.V., Hill,S.P., Bennett,D.C., Levin,A.V., Nieuwenhuis,H.K., Fong,C.T., Castellan,C., Miterski,B., Swank,R.T., and Spritz,R.A. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 2002; Nat.Genet. 30: 321-324.
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- Tripathi,R.K., Bundey,S., Musarella,M.A., Droetto,S., Strunk,K.M., Holmes,S.A., and Spritz,R.A. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 1993; Am.J.Hum.Genet. 53: 1173-1179.
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- Wildenberg,S.C., Oetting,W.S., Almodovar,C., Krumwiede,M., White,J.G., and King,R.A. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. 1995; Am.J.Hum.Genet. 57: 755-765.
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- Zhang,Y., Schlachetzki,F., Li,J.Y., Boado,R.J., and Pardridge,W.M. Organ-specific gene expression in the rhesus monkey eye following intravenous non-viral gene transfer. 2003; Mol.Vis. 9:465-72.: 465-472.
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