Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Blood - Tập 121 Số 19 - Trang 3925-3935 - 2013
Immacolata Andolfo1,2, Seth L. Alper3, Lucia De Franceschi4, Carla Auriemma1,2, Roberta Russo1,2, Luigia De Falco1,2, Fara Vallefuoco1,2, Maria Rosaria Esposito1,2, David H. Vandorpe3, Boris E. Shmukler3, Rupa Narayan5, Donatella Montanaro2, Maria D’Armiento6, Annalisa Vetro7, Ivan Limongelli7, Orsetta Zuffardi7, Bertil Glader5, Stanley L. Schrier8, Carlo Brugnara9, Gordon W. Stewart10, J. Delaunay11, Achille Iolascon1,2
1Centro di Ingegneria Genetica (CEINGE), Biotecnologie Avanzate, Naples, Italy;
2Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy
3Renal Division and Molecular and Vascular Medicine Division, Beth Israel Deaconess Medical Center and Department of Medicine, Harvard Medical School, Boston, MA;
4Department of Medicine, University of Verona, Verona, Italy
5Division of Hematology-Oncology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA;
6Dipartimento di Scienze biomediche avanzate, Federico II University of Naples, Naples, Italy;
7Department of Molecular Medicine, University of Pavia, Pavia, Italy
8Division of Hematology, Department of Medicine, Stanford University School of Medicine, Stanford, CA
9Department of Laboratory Medicine, Boston Children's Hospital and Department of Pathology, Harvard Medical School, Boston, MA
10Division of Medicine, University College London, London, United Kingdom; and
11Institut National de la Sante et de la Recherche Médicale (INSERM), Faculté de Médecine Paris-Sud, Université Paris-Sud, Paris, France

Tóm tắt

Key Points Dehydrated hereditary stomatocytosis is characterized by abnormal RBC morphology but may involve pseudohyperkalemia and perinatal edema. This syndrome is associated with germline mutations in PIEZO1, encoding a transmembrane protein that induces mechanosensitive currents.

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Blood

Tập 121 Số 19

3925-3935

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