Overview of clinical and molecular features and case report of a new HPS-1 variant

Hamostaseologie

Volumn 34, Issue 4, 2014, Pages 301-309

  Sanchez Guiu I ^a   Torregrosa, J M ^a   Velasco, F ^b   Anton A I ^a   Lozano, M L ^a   Vicente, V ^a   Rivera, J ^a  

^a UNIVERSITY OF MURCIA   (Spain)

^b UNIVERSITY OF CÓRDOBA   (Spain)

Author keywords

Dense granules; Hermansky Pudlak syndrome; Inherited platelet disorders

Indexed keywords

ADULT; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CASE REPORT; CLINICAL FEATURE; COLITIS; DIAGNOSTIC APPROACH ROUTE; DISEASE SEVERITY; GENOTYPE PHENOTYPE CORRELATION; GRANULOMATOSIS; HOMOZYGOSITY; HUMAN; HYPOPIGMENTATION; LUNG FIBROSIS; MALE; NONHUMAN; NONSENSE MUTATION; OCULAR ALBINISM; PATHOPHYSIOLOGY; QUALITY OF LIFE; REVIEW; SYMPTOMATOLOGY; EVIDENCE BASED MEDICINE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HERMANSKI-PUDLAK SYNDROME; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC MARKER; HPS1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADULT; BASE SEQUENCE; EVIDENCE-BASED MEDICINE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84920158704     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.5482/HAMO-14-06-0024     Document Type: Review

References (65)

1. Bolton-Maggs PH, Chalmers EA, Collins PW et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006; 135: 603-633.
2. Salles, II, Feys HB, Iserbyt BF, De Meyer SF et al. Inherited traits affecting platelet function. Blood Rev 2008; 22: 155-172.
3. Nurden AT, Nurden P. Congenital platelet disorders and understanding of platelet function. Br J Haematol 2014; 165: 165-178.
4. Thon JN, Italiano JE. Platelets: production, morphology and ultrastructure. Handb Exp Pharmacol 2012; 3-22.
5. 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.
6. Dotta L, Parolini S, Prandini A et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis 2013; 8: 168.
7. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost 2004; 30: 537-547.
8. Carmona-Rivera C, Golas G, Hess RA et al. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. J Invest Dermatol 2011; 131: 2394-2400.
9. Masliah-Planchon J, Darnige L, Bellucci S. Molecular determinants of platelet delta storage pool deficiencies: an update. Br J Haematol 2013; 160: 5-11.
10. Del Pozo Pozo AI, Jimenez-Yuste V, Villar A et al. Successful thyroidectomy in a patient with Hermansky- Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates. Blood Coagul Fibrinolysis 2002; 13: 551-553.
11. Gonzalez-Conejero R, Rivera J, Escolar G, Zuazu- Jausoro I, Vicente V, Corral J. Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. Br J Haematol 2003; 123: 132-138.
12. Huizing M, Helip-Wooley A, Westbroek W et al. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008; 9: 359-386.
13. Wei AH, Li W. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res 2013; 26: 176-192.
14. Cullinane AR, Curry JA, Carmona-Rivera C et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet 2011; 88: 778-787.
15. Badolato R, Prandini A, Caracciolo S et al. Exome sequencing reveals a pallidin mutation in a Hermansky- Pudlak-like primary immunodeficiency syndrome. Blood 2012; 119: 3185-3187.
16. Morgan NV, Pasha S, Johnson CA et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 2006; 78: 160-166.
17. Cullinane AR, Curry JA, Golas G et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. Pigment Cell Melanoma Res 2012; 25: 584-591.
18. Li W, Zhang Q, Oiso N et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosomerelated organelles complex 1 (BLOC-1). Nat Genet 2003; 35: 84-89.
19. Lowe GC, Sanchez Guiu I, Chapman O et al. Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life. Thromb Haemost 2013; 109: 4.
20. Anikster Y, Huizing M, White J et al. Mutation of a new gene causes a unique form of Hermansky- Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001; 28: 376-380.
21. Huizing M, Anikster Y, Fitzpatrick DL et al. 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: 1022-1032.
22. Boissy RE, Richmond B, Huizing M et al. Melanocyte- specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrometype 3. Am J Pathol 2005; 166: 231-240.
23. Thielen N, Huizing M, Krabbe JG et al. Hermansky- Pudlak syndrome: the importance of molecular subtyping. J Thromb Haemost 2010; 8: 1643-1645.
24. Zhang Q, Zhao B, Li W et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003; 33: 145-153.
25. Huizing M, Hess R, Dorward H et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 2004; 5: 711-722.
26. Korswagen LA, Huizing M, Simsek S et al. A novel mutation in a Turkish patient with Hermansky- Pudlak syndrome type 5. Eur J Haematol 2008; 80: 356-360.
27. Schreyer-Shafir N, Huizing M, Anikster Y et al. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. Hum Mutat 2006; 27: 1158.
28. Huizing M, Pederson B, Hess RA et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet 2009; 46: 803-810.
29. Carmona-Rivera C, Simeonov DR, Cardillo ND et al. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochim Biophys Acta 2013; 1833: 468-478.
30. Oh J, Bailin T, Fukai K et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996; 14: 300-306.
31. Oh J, Ho L, Ala-Mello S et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 1998; 62: 593-598.
32. Shotelersuk V, Hazelwood S, Larson D et al. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 1998; 64: 99-107.
33. Spritz RA, Oh J. HPS gene mutations in Hermansky- Pudlak syndrome. Am J Hum Genet 1999; 64: 658.
34. Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002; 20: 482.
35. Suzuki T, Ito S, Inagaki K et al. Investigation on the IVS5 +5G --< a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. J Dermatol Sci 2004; 36: 106-108.
36. Natsuga K, Akiyama M, Shimizu T et al. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky- Pudlak syndrome type 1. J Invest Dermatol 2005; 125: 154-158.
37. Iwakawa J, Matsuyama W, Watanabe M et al. Hermansky- Pudlak syndrome with a novel mutation. Intern Med 2005; 44: 733-738.
38. Ito S, Suzuki T, Inagaki K et al. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 2005; 125: 715-720.
39. Merideth MA, Vincent LM, Sparks SE et al. Hermansky- Pudlak syndrome in two African-American brothers. Am J Med Genet A 2009; 149A: 987-992.
40. Vincent LM, Adams D, Hess RA et al. Hermansky- Pudlak syndrome type 1 in patients of Indian descent. Mol Genet Metab 2009; 97: 227-233.
41. Wei A, Lian S, Wang L, Li W. The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. J Dermatol Sci 2009; 56: 130-132.
42. Sandrock K, Zieger B. Current strategies in diagnosis of inherited storage pool defects. Transfus Med Hemother 2010; 37: 248-258.
43. Sandrock K, Bartsch I, Rombach N et al. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). Klin Pädiatr 2010; 222: 168-174.
44. Wei A, Yang X, Lian S, Li W. Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. J Dermatol Sci 2011; 62: 124-127.
45. Carmona-Rivera C, Hess RA, O'Brien K et al. Novel mutations in the HPS1 gene among Puerto Rican patients. Clin Genet 2011; 79: 561-567.
46. Suzuki T, Li W, Zhang Q, Karim A et al. Hermansky- Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002; 30: 321-324.
47. Anderson PD, Huizing M, Claassen DA et al. Hermansky- Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 2003; 113: 10-17.
48. Bachli EB, Brack T, Eppler E et al. Hermansky- Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Am J Med Genet A. 2004; 127A: 201-207.
49. Jones ML, Murden SL, Bem D et al. Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost 2012; 10: 306-309.
50. Araki Y, Ishii Y, Abe Y et al. Hermansky-Pudlak syndrome type 4 with a novel mutation. J Dermatol 2014; 41: 186-187.
51. Dell'Angelica EC. AP-3-dependent trafficking and disease: the first decade. Curr Opin Cell Biol 2009; 21: 552-559.
52. Dell'Angelica EC, Shotelersuk V, Aguilar RC et al. Altered trafficking of lysosomal proteins in Hermansky- Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999; 3: 11-21.
53. Huizing M, Scher CD, Strovel E et al. 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: 150-158.
54. Clark RH, Stinchcombe JC, Day A et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 2003; 4: 1111-1120.
55. Fontana S, Parolini S, Vermi W et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 2006; 107: 4857-4864.
56. Enders A, Zieger B, Schwarz K et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky- Pudlak syndrome type II. Blood 2006; 108: 81-87.
57. Wenham M, Grieve S, Cummins M et al. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica 2010; 95: 333-337.
58. Kurnik K, Bartsch I, Maul-Pavicic A et al. Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets 2013; 24: 538-543.
59. Li W, Rusiniak ME, Chintala S et al. Murine Hermansky- Pudlak syndrome genes: regulators of lysosome- related organelles. Bioessays 2004; 26: 616-628.
60. Hayward CP, Harrison P, Cattaneo M et al. Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function. J Thromb Haemost 2006; 4: 312-319.
61. Favaloro EJ. Utility of the PFA-100 for assessing bleeding disorders and monitoring therapy: a review of analytical variables, benefits and limitations. Haemophilia 2001; 7: 170-179.
62. Seward SL Jr, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics 2013; 132: 153-160.
63. Harrison P, Lordkipanidze M. Testing platelet function. Hematol Oncol Clin North Am 2013; 27: 411-441.
64. White JG. Electron-dense chains and clusters in platelets from patients with storage pool-deficiency disorders. J Thromb Haemost 2003; 1: 74-79.
65. Seligsohn U. Treatment of inherited platelet disorders. Haemophilia 2012; 18 (Suppl 4): 161-165.