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Original Articles

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

ORCID Icon, , , , , , , , , , , , , , , , , , , , , , ORCID Icon, & show all
Pages 141-148 | Received 11 Dec 2018, Accepted 22 Feb 2019, Published online: 16 Apr 2019

References

  • Masliah-Planchon J, Darnige L, Bellucci S. Molecular determinants of platelet delta storage pool deficiencies: an update. Br J Haematol. 2013;160:5–11.
  • Sánchez-Guiu I, Torregrosa JM, Velasco F, et al. Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. Hamostaseologie. 2014;34:301–309.
  • 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. 2004;127:201–207.
  • 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.
  • Ammann S, Schulz A, Krägeloh-Mann I, et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016;127:997–1006.
  • Bastida JM, Hernández-Rivas JM, González-Porras JR. Novel approaches for diagnosing inherited platelet disorders. Med Clin. 2017;148:71–77.
  • Simeoni I, Stephens JC, Hu F, et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood. 2016;127:2791–2803.
  • Bastida JM, Palma-Barqueros V, Lozano ML, et al. A modern approach to the molecular diagnosis of inherited bleeding disorders. J Mol Genet Med. 2018;12:322.
  • Bastida JM, Lozano ML, Benito R, et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica. 2018;103:148–162.
  • Bastida JM, Del Rey M, Lozano ML, et al. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders. Haemophilia. 2016;22:590–597.
  • Bastida JM, González-Porras JR, Jiménez C, et al. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Thromb Haemost. 2017;117:66–74.
  • González-Conejero R, Rivera J, Escolar G, et al. 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.
  • Sánchez-Guiu I, Antón AI, Padilla J, et al. Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. Orphanet J Rare Dis. 2014;9:213.
  • King SM, McNamee RA, Houng AK, et al. Platelet dense-granule secretion plays a critical role in thrombosis and subsequent vascular remodeling in atherosclerotic mice. Circulation. 2009;120:785–791.
  • Lozano ML, Cook A, Bastida JM, et al. Novel mutations in RASGRP2 encoding for CalDAG-GEFI abrogate Rap1 activation causing platelet dysfunction. Blood. 2016;128:1282–1289.
  • Bastida JM, Del Rey M, Revilla N, et al. Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia. Platelets. 2017;28:417–420.
  • Bastida JM, Benito R, Janusz K, et al. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. J Thromb Haemost. 2017;15:1859–1866.
  • Bastida JM, Benito R, Lozano ML, et al. Molecular diagnosis of inherited coagulation and bleeding disorders. Semin Thromb Hemost. 2019;1–17.
  • 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.
  • Seward SL, Jr, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics. 2013;132:153–160.
  • 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 lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35:84–89.
  • Loredana Asztalos M, Schafernak KT, Gray J, et al. Hermansky-Pudlak syndrome: report of two patients with updated genetic classification and management recommendations. Pediatr Dermatol. 2017;34:638–646.
  • Miyamichi D, Asahina M, Nakajima J, et al. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet. 2016;61:839–842.
  • Andres O, Wiegering V, König EM, et al. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2017;64. DOI:https://doi.org/10.1002/pbc.26320
  • 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.
  • Bryan MM, Tolman NJ, Simon KL, et al. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Mol Genet Metab. 2017;120:378–383.
  • Lowe GC, Guiu I, Chapman O, UK GAPP collaborative, 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;109:766–768.
  • Huizing M, Malicdan MCV, Gochuico BR, et al. Hermansky-Pudlak Syndrome. [updated 2017 Oct 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019.
  • Sandrock-Lang K, Böckelmann D, Eberl W, et al. A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. Blood Cells Mol Dis. 2018;69:113–116.
  • Weaver JM, Edwards PA. Targeted next-generation sequencing for routine clinical screening of mutations. Genome Med. 2011;3:58.
  • Daber R, Sukhadia S, Morrissette JJ. Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets. Cancer Genet. 2013;206:441–448.

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