Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 293-295

  Beneteau, C ^a   Thierry, G ^a   Blesson, S ^b   Le Vaillant, C ^a   Picard, V ^c   Bene M C ^a   Eveillard, M ^a   Le Caignec, C ^a,d  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY HOSPITAL OF TOURS   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d L INSTITUT DU THORAX   (France)

Author keywords

[No Author keywords available]

Indexed keywords

IRON; ION CHANNEL; PIEZO1 PROTEIN, HUMAN;

ASCITES; ASYMPTOMATIC DISEASE; AUTOSOMAL DOMINANT INHERITANCE; CYTOMETRY; EKTACYTOMETRY; FAMILY HISTORY; FETAL CUTANEOUS EDEMA; FETUS DISEASE; FETUS HYDROPS; FLOW CYTOMETRY; GALLSTONE; GENE; GENE MUTATION; HEMOLYTIC ANEMIA; HEPATOMEGALY; HEPATOSPLENOMEGALY; HEREDITARY XEROCYTOSIS; HETEROZYGOTE; HUMAN; HYDROTHORAX; IRON BLOOD LEVEL; JAUNDICE; LETTER; MEGALOCYTOSIS; PIEZO1 GENE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; ANEMIA, HEMOLYTIC, CONGENITAL; CASE REPORT; CHROMOSOME SEGREGATION; COMPLICATION; GENETICS; HYDROPS FETALIS; MUTATION; PEDIGREE; PHENOTYPE;

ANEMIA, HEMOLYTIC, CONGENITAL; CHROMOSOME SEGREGATION; HETEROZYGOTE; HUMANS; HYDROPS FETALIS; ION CHANNELS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84892986377     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12147     Document Type: Letter

References (5)

1. Ami O, Picone O, Garçon L et al. First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis. Prenat Diagn 2009: 29: 1071-1074.
2. Zarychanski R, Schulz VP, Houston BL et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 2012: 120: 1908-1915.
3. Grootenboer S, Schischmanoff PO, Laurendeau I et al. Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. Blood 2000: 96: 2599-2605.
4. Tachavanich K, Tanphaichitr VS, Utto W, Viprakasit V. Rapid flow cytometric test using eosin-5-maleimide for diagnosis of red blood cell membrane disorders. Southeast Asian J Trop Med Public Health 2009: 40: 570-575.
5. Hua SZ, Gottlieb PA, Heo J, Sachs F. A mechanosensitive ion channel regulating cell volume. Am J Physiol Cell Physiol 2010: 298: C1424-C1430.