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Case Report

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3

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Pages 960-963 | Received 09 Oct 2019, Accepted 03 Dec 2019, Published online: 27 Dec 2019

References

  • 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. doi:10.1182/blood.V14.2.162.162.
  • Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008;9:359–386. doi:10.1146/annurev.genom.9.081307.164303.
  • Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, et al. The risk of hemophagocytic lymphohistiocytosis in hermansky-pudlak syndrome type 2. Blood 2013;121:2943–2951. doi:10.1182/blood-2012-10-463166.
  • Kurnik K, Bartsch I, Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, Rombach N, Busse A, Belohradsky BH, Muller-Hocker J, et al. Novel mutation in hermansky-pudlak syndrome type 2 with mild immunological phenotype. Platelets 2013;24:538–543. doi:10.3109/09537104.2012.741275.
  • Montoliu L, Gronskov K, Wei AH, Martinez-Garcia M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, et al. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res 2014;27:11–18. doi:10.1111/pcmr.12167.
  • Sandrock K, Bartsch I, Rombach N, Schmidt K, Nakamura L, Hainmann I, Busse A, Zieger B. Compound heterozygous mutations in 2 siblings with hermansky-pudlak syndrome type 1 (hps1). KlinPadiatr 2010;222:168–174.
  • Sandrock-Lang K, Bartsch I, Buechele N, Koehler U, Simon-Gabriel CP, Eckenweiler M, Zieger B. Novel mutation in two brothers with hermansky pudlak syndrome type 3. Blood Cells Mol Dis 2017. doi:10.1016/j.bcmd.2017.03.001.
  • Sandrock-Lang K, Bockelmann D, Eberl W, Schmitt-Kastner S, Zieger B. A novel nonsense mutation in a patient with hermansky-pudlak syndrome type 4. Blood Cells Mol Dis 2018;69:113–116. doi:10.1016/j.bcmd.2017.10.005.
  • Wei AH, Li W. Hermansky-pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res 2013;26:176–192. doi:10.1111/pcmr.12051.
  • Wei ML. Hermansky-pudlak syndrome: A disease of protein trafficking and organelle function. Pigment Cell Res 2006;19:19–42. doi:10.1111/pcr.2006.19.issue-1.
  • Dell’Angelica EC, Mullins C, Caplan S, Bonifacino JS. Lysosome-related organelles. Faseb J 2000;14:1265–1278. doi:10.1096/fasebj.14.10.1265.
  • Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-pudlak syndrome with granulomatous colitis. Ann Intern Med 1980;92:20–23. doi:10.7326/0003-4819-92-1-20.
  • Erzin Y, Cosgun S, Dobrucali A, Tasyurekli M, Erdamar S, Tuncer M. Complicated granulomatous colitis in a patient with hermansky-pudlak syndrome, successfully treated with infliximab. Acta Gastroenterol Belg 2006;69:213–216.
  • Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (hermansky-pudlak syndrome). N Engl J Med 1998;338:1258–1264. doi:10.1056/NEJM199804303381803.
  • Summers CG, Knobloch WH, Witkop CJ Jr., King RA. Hermansky-pudlak syndrome. Ophthalmic findings. Ophthalmology 1988;95:545–554. doi:10.1016/S0161-6420(88)33152-0.
  • Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, et al. Mutations in ap3d1 associated with immunodeficiency and seizures define a new type of hermansky-pudlak syndrome. Blood 2016;127:997–1006. doi:10.1182/blood-2015-09-671636.
  • Podda G, Femia EA, Pugliano M, Cattaneo M. Congenital defects of platelet function. Platelets 2012;23:552–563. doi:10.3109/09537104.2012.724737.
  • Sandrock K, Zieger B. Current strategies in diagnosis of inherited storage pool defects. Transfus Med Hemother 2010;37:248–258.
  • Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for hermansky-pudlak syndrome. Am J Hematol 1987;26:305–311. doi:10.1002/(ISSN)1096-8652.
  • Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, Neunert C, Lillicrap D, ISj VWF. Perinatal/Pediatric Hemostasis Subcommittees Working G: isth/ssc bleeding assessment tool: A standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010;8:2063–2065. doi:10.1111/j.1538-7836.2010.03975.x.
  • Cattaneo M, Cerletti C, Harrison P, Hayward CP, Kenny D, Nugent D, Nurden P, Rao AK, Schmaier AH, Watson SP, et al. Recommendations for the standardization of light transmission aggregometry: A consensus of the working party from the platelet physiology subcommittee of ssc/isth. JTH 2013. doi:10.1111/jth.12231.
  • Cattaneo M, Bettega D, Lombardi R, Lecchi A, Mannucci PM. Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma. Br J Haematol 1992;82:388–390. doi:10.1111/j.1365-2141.1992.tb06434.x.
  • Cattaneo M, Lecchi A, Lombardi R, Gachet C, Zighetti ML. Platelets from a patient heterozygous for the defect of p2cyc receptors for adp have a secretion defect despite normal thromboxane a2 production and normal granule stores: further evidence that some cases of platelet ‘primary secretion defect’ are heterozygous for a defect of p2cyc receptors. Arterioscler Thromb Vasc Biol 2000;20:E101–106. doi:10.1161/01.atv.20.11.e101.
  • Gresele P. Subcommittee on platelet physiology of the international society on t, hemostasis: diagnosis of inherited platelet function disorders: guidance from the ssc of the isth. J Thromb Haemost 2015;13:314–322. doi:10.1111/jth.2015.13.issue-2.
  • Jedlitschky G, Cattaneo M, Lubenow LE, Rosskopf D, Lecchi A, Artoni A, Motta G, Niessen J, Kroemer HK, Greinacher A. Role of mrp4 (abcc4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies. Am J Pathol 2010;176:1097–1103. doi:10.2353/ajpath.2010.090425.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015;17:405–424. doi:10.1038/gim.2015.30.
  • Khan AO, Tamimi M, Lenzner S, Bolz HJ. Hermansky-pudlak syndrome genes are frequently mutated in patients with albinism from the arabian peninsula. Clin Genet 2016;90:96–98. doi:10.1111/cge.2016.90.issue-1.
  • Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monferme S, Lacombe D, Rooryck C, Morice-Picard F, et al. Molecular characterization of a series of 990 index patients with albinism. Pigment Cell Melanoma Res 2018;31:466–474. doi:10.1111/pcmr.12688.
  • Okamura K, Hayashi M, Abe Y, Kono M, Nakajima K, Aoyama Y, Nishigori C, Ishimoto H, Ishimatsu Y, Nakajima M, et al. Ngs-based targeted resequencing identified rare subtypes of albinism: providing accurate molecular diagnosis for japanese patients with albinism. Pigment Cell Melanoma Res 2019;32:848–853. doi:10.1111/pcmr.v32.6.
  • Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood 2016;127:2791–2803. doi:10.1182/blood-2015-12-688267.
  • Corral J, Gonzalez-Conejero R, Pujol-Moix N, Domenech P, Vicente V. Mutation analysis of hps1, the gene mutated in hermansky-pudlak syndrome, in patients with isolated platelet dense-granule deficiency. Haematologica 2004;89:325–329.
  • Gerritsen SM, Akkerman JW, Nijmeijer B, Sixma JJ, Witkop CJ, White J. The hermansky-pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes. Scandinavian. J Haemato 1977;18:249–256.
  • 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. doi:10.1046/j.1365-2141.2003.04557.x.
  • Bastida JM, Benito R, Lozano ML, Marin-Quilez A, Janusz K, Martin-Izquierdo M, Hernandez-Sanchez J, Palma-Barqueros V, Hernandez-Rivas JM, Rivera J, et al. Molecular diagnosis of inherited coagulation and bleeding disorders. Semin Thromb Hemost 2019;45:695–707. doi:10.1055/s-0039-1687889.
  • Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernandez-Sanchez JM, Riesco S, Bermejo N, Gonzalez-Garcia H, et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica 2018;103:148–162. doi:10.3324/haematol.2017.171132.
  • Bastida JM, Morais S, Palma-Barqueros V, Benito R, Bermejo N, Karkucak M, Trapero-Marugan M, Bohdan N, Pereira M, Marin-Quilez A, et al. Identification of novel variants in ten patients with hermansky-pudlak syndrome by high-throughput sequencing. Ann Med 2019;51:141–148. doi:10.1080/07853890.2019.1587498.

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