Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

  title={Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.},
  author={Edyta Glogowska and Eve R Schneider and Yelena D. Maksimova and Vincent P Schulz and Kimberly Lezon-Geyda and J. C. K. Wu and Kottayam Radhakrishnan and Siob{\'a}n B. Keel and Donald H. Mahoney and Alison M. Freidmann and Rachel A. Altura and Elena O. Gracheva and Sviatoslav N. Bagriantsev and Theodosia A Kalfa and Patrick G Gallagher},
  volume={130 16},
Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We used next-generation sequencing-based techniques to identify PIEZO1 mutations in individuals from 9 kindreds referred with suspected hereditary xerocytosis (HX) and/or undiagnosed congenital hemolytic anemia. Mutations were primarily found in the highly conserved, COOH-terminal pore-region domain. Several mutations were novel and… CONTINUE READING