{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T16:13:44Z","timestamp":1781021624844,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T00:00:00Z","timestamp":1656547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD patients were reported so far with <jats:italic>SLC9A3<\/jats:italic> variants that impair the function of the encoded intestinal sodium\u2010proton exchanger 3 (NHE3).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a 4\u2010year\u2010old patient, born prematurely in the 35th week of gestation, with antenatal polyhydramnios and dilated intestinal loops, and with diarrhea of congenital onset, 2\u20136 times a day, and with polydipsia. She thrived age\u2010appropriately under a normal family diet. Serum sodium levels were repeatedly normal but urinary sodium excretion was low. Exome sequencing revealed compound heterozygous variants in <jats:italic>SLC9A3<\/jats:italic> as the likely cause of the congenital diarrhea.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>While exome sequencing did not reveal pathogenic or likely pathogenic variants in other genes that cause syndromic or non\u2010syndromic forms of congenital and intractable diarrheas, we identified novel compound heterozygous variants in <jats:italic>SLC9A3<\/jats:italic>, a complex allele with two missense changes, NP_004165.2:p.[Ser331Leu;Val449Ile] and in\u2010trans the missense variant p.(Phe451Ser).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The clinical phenotype here appears to localize to the milder end of the known CSD spectrum, and the identified variants suggest that this is the twelfth patient reported to date with CSD due to mutations in <jats:italic>SLC9A3<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2000","type":"journal-article","created":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T06:46:21Z","timestamp":1656657981000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Further delineation of <scp><i>SLC9A3<\/i><\/scp>\u2010related congenital sodium diarrhea"],"prefix":"10.1002","volume":"10","author":[{"given":"Ema","family":"Bogdanic","sequence":"first","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Heinz\u2010Erian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Garczarczyk\u2010Asim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-0315","authenticated-orcid":false,"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"},{"name":"Division of Human Genetics Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"R\u00fcckel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Erlangen  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.027375"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92369-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.90520.2008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103712"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.028605"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000002258"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.004"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80465-0"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy394"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001139"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv367"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.31.10.1156"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2015-309441"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/ecco-jcc\/jjab056"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmgh.2021.03.005"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/MIB.0000000000000504"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.03.067"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1042\/CS20200065"}],"container-title":["Molecular Genetics &amp; 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