{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:36:24Z","timestamp":1747182984136,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T00:00:00Z","timestamp":1555027200000},"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":["Annals of Human Genetics"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. As neither postnatal hyperkalemia nor permanent hearing deficits were shown, clinical assessment was consistent with antenatal Bartter syndrome (ABS) type I, which was never described before in the Israeli Bedouin population. Through genome\u2010wide linkage analysis, we identified a single \u223c3.3\u00a0Mbp disease\u2010associated locus on chromosome 15q21.1, segregating within the pedigree. Whole\u2010exome sequencing revealed a single novel homozygous missense mutation within this locus, in <jats:italic>SLC12A1<\/jats:italic>, encoding the Na\u2010K\u2010Cl cotransporter, NKCC2, in accordance with the clinical diagnosis. In this concise study, we report a novel missense mutation within the <jats:italic>SLC12A1<\/jats:italic> gene, causing a severe form of ABS type I, the first to be described in Israeli Bedouins, with unusual clinical features of hypernatremia caused by nephrogenic diabetes insipidus and putatively related micrognathia with upper airway abnormalities\n.<\/jats:p>","DOI":"10.1111\/ahg.12317","type":"journal-article","created":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T15:38:20Z","timestamp":1555083500000},"page":"361-366","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel <i>SLC12A1<\/i> mutation in Bedouin kindred with antenatal Bartter syndrome type I"],"prefix":"10.1111","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1598-989X","authenticated-orcid":false,"given":"Daniel","family":"Halperin","sequence":"first","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, 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and Faculty of Health Sciences Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Yogev","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ohad","family":"Wormser","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Schreiber","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Clinic, Soroka University Medical Center and Faculty of Health Sciences Ben\u2010Gurion 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