A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

被引：0
|
作者：
Daniele Zama
Giulia Giulietti
Edoardo Muratore
Immacolata Andolfo
Roberta Russo
Achille Iolascon
Andrea Pession
机构：
[1] University of Bologna,Department of Pediatrics, “Lalla Seràgnoli,” Hematology
[2] “Federico II” University of Naples,Oncology Unit, Sant’Orsola
[3] CEINGE,Malpighi Hospital
[4] Biotecnologie Avanzate,Department of Molecular Medicine and Medical Biotechnologies
来源：
Italian Journal of Pediatrics | / 46卷
关键词：
Hemolytic anemia; Dehydrated hereditary stomatocytosis; Mean corpuscular hemoglobin concentration (MCHC); Genetic disease; Next generation sequencing (NGS);
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature
    Zama, Daniele
    Giulietti, Giulia
    Muratore, Edoardo
    Andolfo, Immacolata
    Russo, Roberta
    Iolascon, Achille
    Pession, Andrea
    ITALIAN JOURNAL OF PEDIATRICS, 2020, 46 (01)
  • [2] UNDERSTANDING DEHYDRATED HEREDITARY STOMATOCYTOSIS: A FAMILIAL CASE STUDY OF TWO NOVEL PIEZO1 VARIANTS
    Lundholm, August
    Tornudd, Lisa
    Tesi, Bianca
    Robinson, Kristina Lagerstedt
    Beshara, Soheir
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2024, 46 : 60 - 60
  • [3] Slower Piezo1 Inactivation in Dehydrated Hereditary Stomatocytosis (Xerocytosis)
    Demolombe, Sophie
    Duprat, Fabrice
    Honore, Eric
    Patel, Amanda
    BIOPHYSICAL JOURNAL, 2013, 105 (04) : 833 - 834
  • [4] TWO NOVEL MISSENSE MUTATIONS IN PIEZO1 IN SIX PATIENTS WITH DEHYDRATED HEREDITARY STOMATOCYTOSIS
    Koralkova, P.
    Wegman, J.
    Rensma, W.
    Smiers, F. J.
    van Wijk, R.
    HAEMATOLOGICA, 2014, 99 : 182 - 182
  • [5] Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
    Andolfo, Immacolata
    Alper, Seth L.
    De Franceschi, Lucia
    Auriemma, Carla
    Russo, Roberta
    De Falco, Luigia
    Vallefuoco, Fara
    Esposito, Maria Rosaria
    Vandorpe, David H.
    Shmukler, Boris E.
    Narayan, Rupa
    Montanaro, Donatella
    D'Armiento, Maria
    Vetro, Annalisa
    Limongelli, Ivan
    Zuffardi, Orsetta
    Glader, Bertil E.
    Schrier, Stanley L.
    Brugnara, Carlo
    Stewart, Gordon W.
    Delaunay, Jean
    Iolascon, Achille
    BLOOD, 2013, 121 (19) : 3925 - 3935
  • [6] DEHYDRATED HEREDITARY STOMATOCYTOSIS - A REPORT OF 2 FAMILIES AND A REVIEW OF THE LITERATURE
    MCGRATH, KM
    COLLECUTT, MF
    GORDON, A
    SAWERS, RJ
    FARAGHER, BS
    PATHOLOGY, 1984, 16 (02) : 146 - 150
  • [7] Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
    Erina Nakahara
    Keiko Shimojima Yamamoto
    Hiromi Ogura
    Takako Aoki
    Taiju Utsugisawa
    Kenko Azuma
    Hiroyuki Akagawa
    Kenichiro Watanabe
    Michiko Muraoka
    Fumihiko Nakamura
    Michi Kamei
    Koji Tatebayashi
    Jun Shinozuka
    Takahisa Yamane
    Makoto Hibino
    Yoshiya Katsura
    Sonoko Nakano-Akamatsu
    Norimitsu Kadowaki
    Yoshiro Maru
    Etsuro Ito
    Shouichi Ohga
    Hiroshi Yagasaki
    Ichiro Morioka
    Toshiyuki Yamamoto
    Hitoshi Kanno
    Human Genome Variation, 10
  • [8] A 6 NUCLEOTIDE IN FRAME DUPLICATION IN PIEZO1 GENE IN TWO FAMILIES WITH DEHYDRATED HEREDITARY STOMATOCYTOSIS
    Andolfo, I.
    Russo, R.
    Manna, F.
    De Rosa, G.
    Gambale, A.
    De Franceschi, L.
    Iolascon, A.
    HAEMATOLOGICA, 2016, 101 : 605 - 605
  • [9] Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
    Nakahara, Erina
    Yamamoto, Keiko Shimojima
    Ogura, Hiromi
    Aoki, Takako
    Utsugisawa, Taiju
    Azuma, Kenko
    Akagawa, Hiroyuki
    Watanabe, Kenichiro
    Muraoka, Michiko
    Nakamura, Fumihiko
    Kamei, Michi
    Tatebayashi, Koji
    Shinozuka, Jun
    Yamane, Takahisa
    Hibino, Makoto
    Katsura, Yoshiya
    Nakano-Akamatsu, Sonoko
    Kadowaki, Norimitsu
    Maru, Yoshiro
    Ito, Etsuro
    Ohga, Shouichi
    Yagasaki, Hiroshi
    Morioka, Ichiro
    Yamamoto, Toshiyuki
    Kanno, Hitoshi
    HUMAN GENOME VARIATION, 2023, 10 (01)
  • [10] Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature
    Alhazmi, Wedad
    Qurban, Afnan
    Alrashidi, Essa
    RESPIRATORY MEDICINE CASE REPORTS, 2023, 44
12345