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Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants

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References

  1. Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, Lopez JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E (2016) A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood 127:2791–2803. doi:10.1182/blood-2015-12-688267

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidze M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME, Group UGS (2015) Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders. J Thromb Haemost 13:643–650. doi:10.1111/jth.12836

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Takahashi Y, Kanno H, Yamaguchi H, Ohga S, Manabe A, Harigae H, Kunishima S, Ishii E, Kobayashi M, Koike K, Watanabe K, Ito E, Takata M, Yabe M, Ogawa S, Miyano S, Kojima S (2017) Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genet Med. doi:10.1038/gim.2016.197

  4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA (2015) 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 17:405–424. doi:10.1038/gim.2015.30

    Article  PubMed  PubMed Central  Google Scholar 

  5. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H (2003) Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 83:115–122

    Article  CAS  PubMed  Google Scholar 

  6. Balduini CL, Pecci A, Savoia A (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 154:161–174. doi:10.1111/j.1365-2141.2011.08716.x

    Article  CAS  PubMed  Google Scholar 

  7. Kunishima S, Saito H (2010) Advances in the understanding of MYH9 disorders. Curr Opin Hematol 17:405–410. doi:10.1097/MOH.0b013e32833c069c

    Article  CAS  PubMed  Google Scholar 

  8. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 69:1033–1045. doi:10.1086/324267

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI (2011) Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol 26:549–555. doi:10.1007/s00467-010-1735-3

    Article  PubMed  Google Scholar 

  10. Kitamura K, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Furukawa K, Miyano S, Ogawa S, Kunishima S (2013) Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. J Thromb Haemost 11:2071–2073. doi:10.1111/jth.12406

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

This work was supported by the Research on Measures for Intractable Diseases Project from Ministry of Health, Labor, and Welfare and Grant-in-Aid from the Ministry of Health, Labor, and Welfare of Japan (H23-TA012).

Author contribution

S. Kunishima conceived the study, performed Sanger sequencing, immunofluorescence analysis, analyzed the data and wrote the manuscript. Y. Okuno, H. Muramatsu, D. Kojima, and Y. Takahashi performed the targeted sequencing experiments. S. Kojima supervised the study. N. Nagai provided the patients’ samples. All authors gave final approval of the manuscript.

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Authors and Affiliations

  1. Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4-1-1 Sannomaru, Naka-ku, Nagoya, 4600001, Japan

    Shinji Kunishima

  2. Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan

    Okuno Yusuke

  3. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

    Hideki Muramatsu, Daiei Kojima, Yoshiyuki Takahashi & Seiji Kojima

  4. Department of Pediatrics, Okazaki City Hospital, Okazaki, Japan

    Noriko Nagai

Authors
  1. Shinji Kunishima
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  2. Okuno Yusuke
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  3. Hideki Muramatsu
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  4. Daiei Kojima
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  5. Noriko Nagai
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  6. Yoshiyuki Takahashi
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  7. Seiji Kojima
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Corresponding author

Correspondence to Shinji Kunishima.

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Kunishima, S., Yusuke, O., Muramatsu, H. et al. Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants. Ann Hematol 96, 1065–1066 (2017). https://doi.org/10.1007/s00277-017-2972-3

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  • DOI: https://doi.org/10.1007/s00277-017-2972-3

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