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Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops
Author(s) -
Beneteau C.,
Thierry G.,
Blesson S.,
Le Vaillant C.,
Picard V.,
Béné M.C.,
Eveillard M.,
Le Caignec C.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12147
Subject(s) - humanities , medicine , philosophy
Fig. 1. (a) Pedigrees of the two families with hereditary xerocytosis (HX). The pedigrees show cosegregation of the HX phenotype and heterozygous mutation in PIEZO1 . +/+, patients with wild-type alleles; +/−, patients with heterozygous mutation. Not available (NA) indicates that biochemical and genetic analyzes are not available. No hyperkalemia, no gallstones were diagnosed in any members of the two families. (b) Hematological analyzes of patients with HX. At left, erythrocytes morphology showing target and hyperchromic cells with rare stomatocytes. At right, eosin5-maleimide (EMA) staining in flow cytometry showing increased fixation of the stain (black peak). (c) Sequence chromatogram showing the mutation found in the two families. At the top, sequencing data from an affected individual (III-5 of family 1), representing the normal and the mutant PIEZO1 alleles. A G->A transition changes the codon for arginine (CGC) in position 2456 of the PIEZO1 protein to the codon for histidine (CAC).