{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T10:41:45Z","timestamp":1772275305267,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T00:00:00Z","timestamp":1663027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dehydrated hereditary stomatocytosis (DHS) (MIM#194380) is a rare autosomal dominant disorder of red blood cell permeability, characterized by a partially or fully compensated nonimmune hemolytic anemia.\n                    <jats:italic>PIEZO1<\/jats:italic>\n                    is the major gene involved with hundreds of families described, some of which present transient perinatal edema of varying severity. A smaller subset of individuals harbors pathogenic variants in\n                    <jats:italic>KCNN4<\/jats:italic>\n                    , sometimes referred as \u201cGardos channelopathy.\u201d Up to now, only six pathogenic variants in\n                    <jats:italic>KCNN4<\/jats:italic>\n                    have been reported in 13 unrelated families. Unlike\n                    <jats:italic>PIEZO1<\/jats:italic>\n                    \u2010DHS, neither perinatal edema nor fetal loss has ever been observed linked to\n                    <jats:italic>KCNN4<\/jats:italic>\n                    \u2010DHS. We report the first fetal loss due to non\u2010immune hydrops fetalis related to a pathogenic 28\u2009bp deletion (NM_002250.2: c.1109_1119+17del) in\n                    <jats:italic>KCNN4<\/jats:italic>\n                    . This observation underlies the need for very close monitoring of pregnancies when one parent is affected by DHS regardless of genotype (\n                    <jats:italic>PIEZO1<\/jats:italic>\n                    or\n                    <jats:italic>KCNN4<\/jats:italic>\n                    ).\n                  <\/jats:p>","DOI":"10.1111\/cge.14217","type":"journal-article","created":{"date-parts":[[2022,8,28]],"date-time":"2022-08-28T22:44:28Z","timestamp":1661726668000},"page":"543-547","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Gardos channelopathy associated with nonimmune hydrops and fetal loss"],"prefix":"10.1111","volume":"102","author":[{"given":"Le\u00efla","family":"Ghesh","sequence":"first","affiliation":[{"name":"CHU de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale  Nantes France"},{"name":"CHU de Nantes, UF 9321 de F\u0153topathologie et G\u00e9n\u00e9tique  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[{"name":"CHU de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[{"name":"CHU de Nantes, UF 9321 de F\u0153topathologie et G\u00e9n\u00e9tique  Nantes France"},{"name":"CHU de Nantes, Service d'Anatomie et Cytologie Pathologiques  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Picard","sequence":"additional","affiliation":[{"name":"Laboratoire d'H\u00e9matologie, Center Hospitalier Universitaire Bic\u00eatre, Assistance publique \u2013 H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"},{"name":"Facult\u00e9 de Pharmacie, Chatenay Malabry Universit\u00e9 Paris Saclay  Gif\u2010sur\u2010Yvette France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Le Vaillant","sequence":"additional","affiliation":[{"name":"CHU de Nantes, Service de Gyn\u00e9cologie\u2010obst\u00e9trique, diagnostic ant\u00e9natal  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Beneteau","sequence":"additional","affiliation":[{"name":"CHU de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale  Nantes France"},{"name":"CHU de Nantes, UF 9321 de F\u0153topathologie et G\u00e9n\u00e9tique  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.205328"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12147"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/JBM.S179764"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201001591\u2010w"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26245"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010physiol\u2010020911\u2010153336"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.9.5746"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102015\u201004\u2010642496"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24117"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102015\u201007\u2010657957"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.25276"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2018.02.026"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102020\u2010235849"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3466"}],"container-title":["Clinical 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