Hermansky-pudlak syndrome in two African-American brothers

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 987-992

  Merideth, A ^a,b   Vincent, Lisa M ^a   Sparks, Susan E ^c   Hess, Richard A ^a   Manoli, Irini ^a   O'Brien, Kevin J ^a,b   Tsilou, Ekaterina ^d   White, James G ^e   Huizing, Marjan ^a   Gahl, William A ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d NATIONAL EYE INSTITUTE   (United States)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Albinism; Hermansky pudlak syndrome; Platelet dense bodies; Pulmonary fibrosis; Silent mutation; Splice site mutation

Indexed keywords

ADOLESCENT; AFRICAN AMERICAN; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; GENE DELETION; HETEROZYGOSITY; HSP1 GENE; HUMAN; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PRIORITY JOURNAL; SCHOOL CHILD; SPLICING DEFECT;

ADOLESCENT; BLOOD PLATELETS; CHILD; HERMANSKI-PUDLAK SYNDROME; HETEROZYGOTE; HUMANS; IRIS; MALE; MEMBRANE PROTEINS; MUTATION; PIGMENTATION; SIBLINGS;

EID: 66849104467     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32757     Document Type: Article

References (31)

1. Anderson PD, Huizing M, Claassen DA, White JG, Gahl WA. 2003. Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics. Hum Genet 113:10-17.
2. Cartegni L, Chew SL, Krainer AR. 2002. Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat Rev Genet 3:285-298.
3. Gahl WA. 2007. Hermansky-Pudlak Syndrome. In: GeneReviews at Gene Tests Medical Genetics Information Resource. Copyright, University of Washington, Seattle. (online database: www.genetests.org).
4. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. 1998. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338:1258-1264.
5. Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B. 2002. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 76:234-242.
6. Garay SM, Gardella JE, Fazzini EP, Goldring RM. 1979. Hermansky- -Pudlak Syndrome: Pulmonary manifestations of a ceroid storage disorder. Am J Med 66:737-747.
7. Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl WA, Brilliant MH. 2004. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. J Med Genet 41:E86.
8. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. 1997. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet 61:1088-1094.
9. Hermansky F, Pudlak P. 1959. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 14:162-169.
10. Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. 2001. 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 69:1022-1032.
11. Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA. 2004. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 5:711-722.
12. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. 2008. Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics. Annu Rev Genomics Hum Genet 9:359-386.
13. Hussain N, Quezado M, Huizing M, Geho D, White JG, Gahl W, Mannon P. 2006. Intestinal disease in Hermansky-Pudlaksyndrome: Occurrence ofcolitis and relation to genotype. Clin Gastroenterol Hepatol 4:73-80.
14. Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz R, Tomita Y. 2005. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 125:715-720.
15. Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M. 2000. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat 15:166-172.
16. KingRA, Hearing VJ, Creel DJ, OettingWS. 2001. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. Vol. II.8th edition. New York:McGraw-Hill. pp 5587-5627.
17. W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. 2004. Murine Hermansky-Pudlak syndrome genes: Regulators of lysosome- related organelles. Bioassays 26:616-628.
18. Maurer-Spurej E, Dyker K, Gahl WA, Devine DV. 2002. A novel immu- nocytochemical assay for the detection of serotonin in platelets. Br J Haematol 116:604-611.
19. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J-i, Frenk E, Tamura N, Spritz RA. 1996. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 144:300-306.
20. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong C-T, Green JS, Heon E, Legius E, Le in AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. 1998. Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 62:593-598.
21. Reese MG, Eeckman FH, Kulp D, Haussler D. 1997. Improved splice site detection in Genie. J Comp Biol 4:311-323.
22. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MTC, Nicholls RD. 1993. A gene for the mouse pink- eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76.
23. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: A laboratory manual, 2nd edition. Cold Spring Harbor, NY:Cold Spring Harbor Laboratory.
24. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. 1993. Hermansky-Pudlak syndrome in a Swiss population. Dermatology 187:248-256.
25. Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A. 2006. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: Clinical, molecular and cellular characteristics. Hum Mutat 27:1158.
26. Stevens G, van Beukering J, Jenkins T, Ramsay M. 1995. An intragenic deletion of the P gene is the common mutation causing tyrosinase- positive oculocutaneous albinism in Southern African Negroids. Am J Hum Genet 56:586-5591.
27. Stevens G, Ramsay M, Jenkins T. 1997. Oculocutaneous albinism (OCA-2) in sub-Saharan Africa: Distribution of the common 2.7-kb P gene deletion mutation. Hum Genet 99:523-527.
28. Wei ML. 2006. Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Pigment Cell Res 19:19-42.
29. White JG. 1969. The dense bodies of human platelets: Inherent electron opacity of the serotonin storage particles. Blood 33:598-606.
30. Witkop CJ, Krumwiede M, Sedano H, White JG. 1987. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 26:305-311.
31. Witkop CJ, Nunez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, Cal SX, White JG. 1990. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P.Rico 82:333-339.