{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:15:26Z","timestamp":1790702126387,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,9,21]],"date-time":"2015-09-21T00:00:00Z","timestamp":1442793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministero dell'Universit\u00e0 e della Ricerca [(MIUR) to A.I.]"},{"name":"Doris Duke Charitable Trust"},{"name":"NIH","award":["R01 HL077765 (to S.L.A.)"],"award-info":[{"award-number":["R01 HL077765 (to S.L.A.)"]}]},{"name":"Dept. of Hospital Laboratories, UMass Memorial Medical Center, Worcester, MA (to L.M.S.)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>\n                    Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated MCHC and MCV, and decreased osmotic fragility. The majority of symptomatic DHSt cases reported to date have been associated with gain\u2010of\u2010function mutations in the mechanosensitive cation channel gene,\n                    <jats:italic>PIEZO1<\/jats:italic>\n                    . A recent study has identified two families with DHSt associated with a single mutation in the\n                    <jats:italic>KCNN4<\/jats:italic>\n                    gene encoding the Gardos channel (KCa3.1), the erythroid Ca\n                    <jats:sup>2+<\/jats:sup>\n                    \u2010sensitive K\n                    <jats:sup>+<\/jats:sup>\n                    channel of intermediate conductance, also expressed in many other cell types. We present here, in the second report of DHSt associated with\n                    <jats:italic>KCNN4<\/jats:italic>\n                    mutations, two previously undiagnosed DHSt families. Family NA exhibited the same\n                    <jats:italic>de novo<\/jats:italic>\n                    missense mutation as that recently described, suggesting a hot spot codon for DHSt mutations. Family WO carried a novel, inherited missense mutation in the ion transport domain of the channel. The patients' mild hemolytic anemia did not improve post\u2010splenectomy, but splenectomy led to no serious thromboembolic events. We further characterized the expression of\n                    <jats:italic>KCNN4<\/jats:italic>\n                    in the mutated patients and during erythroid differentiation of CD34+ cells and K562 cells. We also analyzed KCNN4 expression during mouse embryonic development. Am. J. Hematol. 90:921\u2013926, 2015. \u00a9 2015 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajh.24117","type":"journal-article","created":{"date-parts":[[2015,7,15]],"date-time":"2015-07-15T10:14:09Z","timestamp":1436955249000},"page":"921-926","source":"Crossref","is-referenced-by-count":88,"title":["Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)"],"prefix":"10.1002","volume":"90","author":[{"given":"Immacolata","family":"Andolfo","sequence":"first","affiliation":[{"name":"Department Of Molecular Medicine And Medical Biotechnologies \u201cFederico II\u201d University Of Naples Naples Italy"},{"name":"Biotecnologie Avanzate CEINGE Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Russo","sequence":"additional","affiliation":[{"name":"Department Of Molecular Medicine And Medical Biotechnologies \u201cFederico II\u201d University Of Naples Naples Italy"},{"name":"Biotecnologie Avanzate CEINGE Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Manna","sequence":"additional","affiliation":[{"name":"Department Of Molecular Medicine And Medical Biotechnologies \u201cFederico II\u201d University Of Naples Naples Italy"},{"name":"Biotecnologie Avanzate CEINGE Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris E.","family":"Shmukler","sequence":"additional","affiliation":[{"name":"Renal Division And Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Harvard Medical School Boston Massachusetts"},{"name":"Department Of Medicine, Harvard Medical School Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Gambale","sequence":"additional","affiliation":[{"name":"Department Of Molecular Medicine And Medical Biotechnologies \u201cFederico II\u201d University Of Naples Naples Italy"},{"name":"Biotecnologie Avanzate CEINGE Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Vitiello","sequence":"additional","affiliation":[{"name":"Biotecnologie Avanzate CEINGE Naples Italy"},{"name":"Medical Genetics Unit Policlinico Tor Vergata University Hospital Viale Oxford Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Department Of Molecular Medicine And Medical Biotechnologies \u201cFederico II\u201d University Of Naples Naples Italy"},{"name":"Biotecnologie Avanzate CEINGE Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Brugnara","sequence":"additional","affiliation":[{"name":"Department Of Laboratory Medicine, Boston Children's Hospital And Department Of Pathology Harvard Medical School Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth L.","family":"Alper","sequence":"additional","affiliation":[{"name":"Renal Division And Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Harvard Medical School Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Michael","family":"Snyder","sequence":"additional","affiliation":[{"name":"Dept Of Hospital Laboratories University Of Massachusetts Medical Center Worcester MA"},{"name":"Quest Diagnositics, LLC MA Marlborough Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"Department Of Molecular Medicine And Medical Biotechnologies \u201cFederico II\u201d University Of Naples Naples Italy"},{"name":"Biotecnologie Avanzate CEINGE Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196904242801701"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V38.2.184.184"},{"key":"e_1_2_6_4_1","first-page":"2599","article-title":"Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23\u2010q24","volume":"96","author":"Grootenboer S","year":"2000","journal-title":"Blood"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.02.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2006.03.005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2257.2006.00774.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23799"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1996.4881033.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-120023377"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-04-422253"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-02-482489"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms2899"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1219777110"},{"key":"e_1_2_6_15_1","unstructured":"RaphaelR\u2010M CarolineL V\u00e9roniqueP et al. 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