Syndromic albinism: A review of genetics and phenotypes

Dermatology Online Journal

Volumn 9, Issue 5, 2003, Pages 32-41

  Scheinfeld, Noah S ^a  

^a ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; GENE PRODUCT; LYSINE; MELANIN; MELANOPHILIN; MYOSIN V; MYOSIN VA; PROTEIN LYST; RAB PROTEIN; RAB27A PROTEIN; UNCLASSIFIED DRUG;

ALBINISM; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; CROSS MCKUSICK BREEN SYNDROME; ELEJALDE SYNDROME; GENE MUTATION; GENETIC DISORDER; GRISCELLI SYNDROME; OCULAR ALBINISM; ONCOGENE RAS; ORTHOLOGY; PHENOTYPE; REVIEW;

EID: 3142583016     PISSN: 10872108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (42)

1. Krisp A, Hoffman R, Happle R, Konig A, Freyschmidt-Paul P Hermansky-Pudlak syndrome. Eur J Dermatol. 2001;11:372-3.
2. Dimson O, Drolet BA, Esterly NB Hermansky-Pudlak syndrome. Pediatr Dermatol. 1999;16:475-7.
3. Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood. 2003;101:4402-7.
4. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003;33:145-53.
5. Martina JA, Moriyama K, Bonifacino JS. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem. 2003;278:29376-84.
6. Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol. 1999;135:774-80.
7. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM.Hermansky-Pudlak syndrome in a Swiss population. Dermatology. 1993;187:248-56.
8. Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA.Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res. 2002;51:150-8.
9. Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet. 2001;69:1022-32.
10. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002;30:321-4.
11. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky-Pudlak Syndrome 1 (HPS1) and HPS4 Proteins Are Components of Two Complexes, BLOC-3 and BLOC-4, Involved in the Biogenesis of Lysosome-related Organelles. J Biol Chem. 2003 May 30;278(22):20332-7. Epub 2003 Mar 27.
12. Starcevic M, Nazarian R, Dell'Angelica EC. The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. Semin Cell Dev Biol 2002;13:271-8
13. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35:84-9.
14. Fukai K, Ishii M, Kadoya A, Chanoki M, Hamada T Chediak-Higashi syndrome: report of a case and review of the Japanese literature. J Dermatol. 1993;20:231-7.
15. Shiflett SL, Kaplan J, Ward DM.Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res. 2002;15:251-7.
16. Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS, Kingsmore SF. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med. 2002;8:56-64.
17. Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa O, Spritz RA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002;108:16-22.
18. Mancini AJ, Chan LS, Paller AS.Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol. 1998;38:295-300.
19. Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003;112:450-6.
20. Chen Y, Samaraweera P, Sun TT, Kreibich G, Orlow SJ.Rab27b association with melanosomes: dominant negative mutants disrupt melanosomal movement. J Invest Dermatol. 2002;118:933-40.
21. Sanal O, Ersoy F, Tezcan I, Metin A, Yel L, Menasche G, Gurgey A, Berkel I, de Saint Basile G.Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. J Clin Immunol. 2002;22:237-43.
22. Fukuda M, Kuroda TS, Mikoshiba K. Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. J Biol Chem. 2002;277:12432-6.
23. Aksu G, Kutukculer N, Genel F, Vergin C, Omowaire B. Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum of Rab27A mutations in humans. Am J Med Genet. 2003;116A:329-33.
24. Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, de la Luz Orozco-Covarrubias M, Tamayo L, Ruiz-Maldonando R. Elejalde syndrome-a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. Arch Dermatol. 1999;135:182-6.
25. Bahadoran P, Ortonne JP, Ballotti R, De Saint-Basile G.Comment on Elejalde syndrome and relationship with Griscelli syndrome. Am J Med Genet. 2003;116A:408-9.
26. Cross HE, McKusick VA, Breen W.A new oculocerebral syndrome with hypopigmentation. J Pediatr. 1967;70:398-406.
27. Preus M, Fraser FC, Wiglesworth FW.An oculocerebral hypopigmentation syndrome. J Genet Hum 1983;31:323-8.
28. Patton MA, Baraitser M, Heagerty AH, Eady RA. An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. J Med Genet 1987;24:118-22.
29. Lerone M, Pessagno A, Taccone A, Poggi G, Romeo G, Silengo MC.Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet. 1992;41:87-9
30. Tezcan I, Demir E, Asan E, Kale G, Muftuoglu SF, Kotiloglu E. A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings. Clin Genet. 1997;51:118-21.
31. Ozkan H, Unsal E, Kose G. Oculocerebral hypopigmentation syndrome (Cross syndrome). Turk J Pediatr. 1991;33:247-52.
32. De Jong G, Fryns JP. Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign. Genet Couns. 1991;2:151-5.
33. Fryns JP, Dereymaeker AM, Heremans G, Marien J, van Hauwaert J, Turner G, Hockey A, van den Berghe H. Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents. Clin Genet. 1988;34:81-4.
34. Courtens W, Broeckx W, Ledoux M, Vamosa E. Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child. Acta Paediatr Scand. 1989;78:806-10.
35. Castle DJ, Jenkins T, Shawinsky AA. The oculocerebral syndrome in association with generalised hypopigmentation. A case report. S Afr Med J 1989 Jul 1;76(1):35-6.
36. Alfadley A, Parkes RM. Two siblings born preterm with large ears and hypopigmented hair who developed palmoplantar keratoderma and frontal skull bossing: a new syndrome? Pediatr Dermatol. 2002;19:224-8.
37. White CP, Waldron M, Jan JE, Carter JE. Oculocerebral hypopigmentation syndrome associated with Bartter syndrome. Am J Med Genet. 1993;46:592-6.
38. Griffiths GM. Albinism and immunity: what's the link? Curr Mol Med. 2002;2:479-83.
39. Huizing M, Boissy RE, Gahl WA. Hermansky-pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res. 2002;15:405-19.
40. Moriyama K, Bonifacino JS. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. Traffic 2002;3:666-77.
41. Nazarian R, Falcon-Perez JM, Dell'Angelica EC. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A. 2003;100:8770-5.
42. Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet. 2003;113:10-7.