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A case of MYH9 disorders caused by a novel mutation (p.K74E)

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References

  1. Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa Y, Nakamura Y, Okamura T, Amemiya N, Nakayama T, Kamiya T, Saito H (2001) Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 97(4):1147–1149

    Article  PubMed  CAS  Google Scholar 

  2. Kelley MJ, Jawien W, Ortel TL, Korczak JF (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26(1):106–108. doi:10.1038/79069

    Article  PubMed  CAS  Google Scholar 

  3. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 26(1):103–105. doi:10.1038/79063

    Article  PubMed  CAS  Google Scholar 

  4. Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Guthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A (2014) MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 35(2):236–247. doi:10.1002/humu.22476

    Article  PubMed  CAS  Google Scholar 

  5. Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A (2003) MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82(3):203–215. doi:10.1097/01.md.0000076006.64510.5c

    Google Scholar 

  6. 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 Investig 83(1):115–122

    Article  PubMed  CAS  Google Scholar 

  7. Iwai S, Hanamoto D, Chaen S (2006) A point mutation in the SH1 helix alters elasticity and thermal stability of myosin II. J Biol Chem 281(41):30736–30744. doi:10.1074/jbc.M605365200

    Article  PubMed  CAS  Google Scholar 

  8. Kunishima S, Matsushita T, Shiratsuchi M, Ikuta T, Nishimura J, Hamaguchi M, Naoe T, Saito H (2005) Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness. Eur J Haematol 74(1):1–5. doi:10.1111/j.1600-0609.2004.00328.x

    Article  PubMed  CAS  Google Scholar 

  9. Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T, Hamaguchi M, Saito H (2007) Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol 78(3):220–226. doi:10.1111/j.1600-0609.2006.00806.x

    Article  PubMed  CAS  Google Scholar 

  10. Miyajima Y, Kunishima S (2009) Identification of the first in cis mutations in MYH9 disorder. Eur J Haematol 82(4):288–291. doi:10.1111/j.1600-0609.2008.01202.x

    Article  PubMed  CAS  Google Scholar 

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Ethics approval and consent to participate

Informed consent was obtained from the patient, and the protocol was performed according to the Declaration of Helsinki and was approved by the ethics committees of Nagoya University and Nagoya Medical Center.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-0065, Japan

    Takeshi Kanematsu, Tomohiro Aoki, Mika Ogawa & Hitoshi Kiyoi

  2. Department of Transfusion Medicine, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-0065, Japan

    Nobuaki Suzuki & Tadashi Matsushita

  3. Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-0065, Japan

    Tadao Yoshida

  4. Department of Clinical Laboratory, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-0065, Japan

    Mayuko Kishimoto

  5. Department of Hematology, Toyota Kosei Hospital, 500-1 Ibobara, Josui-cho, Toyota, Aichi, 470-0343, Japan

    Yoshitoyo Kagami

  6. Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical Center, 4-1-1 Sannomaru Naka-ku, Nagoya, Aichi, 460-0001, Japan

    Shinji Kunishima

Authors
  1. Takeshi Kanematsu
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  2. Nobuaki Suzuki
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  3. Tadao Yoshida
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  4. Mayuko Kishimoto
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  5. Tomohiro Aoki
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  6. Mika Ogawa
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  7. Yoshitoyo Kagami
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  8. Hitoshi Kiyoi
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  9. Tadashi Matsushita
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  10. Shinji Kunishima
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Corresponding author

Correspondence to Nobuaki Suzuki.

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Kanematsu, T., Suzuki, N., Yoshida, T. et al. A case of MYH9 disorders caused by a novel mutation (p.K74E). Ann Hematol 95, 161–163 (2016). https://doi.org/10.1007/s00277-015-2506-9

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  • DOI: https://doi.org/10.1007/s00277-015-2506-9

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