Publication: MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia
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Issued Date
2021-07-01
Resource Type
ISSN
15455017
15455009
15455009
Other identifier(s)
2-s2.0-85115057948
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Pediatric Blood and Cancer. Vol.68, No.7 (2021)
Suggested Citation
Rungrote Natesirinilkul, Darintr Sosothikul, Patcharee Komwilaisak, Bunchoo Pongtanakul, Nattee Narkbunnum, Najwa Yudhasompop, Pimsiri Mekjarusgool, Pimjai Niparuck, Kochawan Boonyawat, Shinji Kunishima, Nongnuch Sirachainan, Somjai Kanjanapongkul, Thirachit Chotsampancharoen, Chanchai Trivaree, Siranee Wongruangsri, Pacharapan Surapolchai, Sumonmaln Klamchuen, Saranya Busakornruangrat, Kittima Kanchanakamhaeng, Nattaporntira Phalakornkul MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia. Pediatric Blood and Cancer. Vol.68, No.7 (2021). doi:10.1002/pbc.29055 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/78048
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Title
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia
Author(s)
Rungrote Natesirinilkul
Darintr Sosothikul
Patcharee Komwilaisak
Bunchoo Pongtanakul
Nattee Narkbunnum
Najwa Yudhasompop
Pimsiri Mekjarusgool
Pimjai Niparuck
Kochawan Boonyawat
Shinji Kunishima
Nongnuch Sirachainan
Somjai Kanjanapongkul
Thirachit Chotsampancharoen
Chanchai Trivaree
Siranee Wongruangsri
Pacharapan Surapolchai
Sumonmaln Klamchuen
Saranya Busakornruangrat
Kittima Kanchanakamhaeng
Nattaporntira Phalakornkul
Darintr Sosothikul
Patcharee Komwilaisak
Bunchoo Pongtanakul
Nattee Narkbunnum
Najwa Yudhasompop
Pimsiri Mekjarusgool
Pimjai Niparuck
Kochawan Boonyawat
Shinji Kunishima
Nongnuch Sirachainan
Somjai Kanjanapongkul
Thirachit Chotsampancharoen
Chanchai Trivaree
Siranee Wongruangsri
Pacharapan Surapolchai
Sumonmaln Klamchuen
Saranya Busakornruangrat
Kittima Kanchanakamhaeng
Nattaporntira Phalakornkul
Other Contributor(s)
Siriraj Hospital
Gifu University of Medical Science
Lampang Hospital
Chulalongkorn University
Hatyai Hospital
Bhumibol Adulyadej Hospital
Khon Kaen University
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Maharaj Nakhon Ratchasima Hospital
Thammasat University
Queen Sirikit National Institute of Child Health
Phramongkutklao College of Medicine
Prince of Songkla University
Sawanpracharak Hospital
Chiang Mai University
Sunpasitthiprasong Hospital
Somdej Prapinklao Hospital
Gifu University of Medical Science
Lampang Hospital
Chulalongkorn University
Hatyai Hospital
Bhumibol Adulyadej Hospital
Khon Kaen University
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Maharaj Nakhon Ratchasima Hospital
Thammasat University
Queen Sirikit National Institute of Child Health
Phramongkutklao College of Medicine
Prince of Songkla University
Sawanpracharak Hospital
Chiang Mai University
Sunpasitthiprasong Hospital
Somdej Prapinklao Hospital
Abstract
The diagnosis of MYH9 disorder is guided by recognizing granulocyte Döhle body-like inclusion bodies and large/giant platelets in the peripheral blood smear. Immunofluorescence study of nonmuscle myosin heavy chain IIA is a sensitive screening method for diagnosis of MYH9 disorder. The diagnosis can then be confirmed by genetic analysis. A total of 67 patients with macrothrombocytopenia were included, of which 11 patients (16%), aged 4 months to 22 years, were ultimately diagnosed with MYH9 disorder. One novel mutation in exon 30 at c.4338T>C (p.F1446A) was detected. This mutation was associated with nonhematologic manifestations presenting in late adolescence with cataracts, hearing loss, and hematuria.