{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T01:58:37Z","timestamp":1769306317324,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T00:00:00Z","timestamp":1766880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T00:00:00Z","timestamp":1766880000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pseudohypoaldosteronism type I (PHA1) is a rare genetic disorder characterized by renal or systemic resistance to aldosterone, resulting in hyponatremia, hyperkalemia, and metabolic acidosis. The autosomal recessive systemic form (PHA1B), caused by mutations in\n                      <jats:italic>SCNN1A<\/jats:italic>\n                      ,\n                      <jats:italic>SCNN1B<\/jats:italic>\n                      , or\n                      <jats:italic>SCNN1G<\/jats:italic>\n                      , is particularly severe and typically manifests in the neonatal period. Among these,\n                      <jats:italic>SCNN1B<\/jats:italic>\n                      \u2010related cases occur less frequently than\n                      <jats:italic>SCNN1A<\/jats:italic>\n                      \u2010related cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      We report a pair of dizygotic preterm twins (male and female) born at 35\u2009+\u20095\u2009weeks of gestation who presented at 8\u2009days of age with poor feeding, weight loss, and severe jaundice. Both developed life\u2010threatening hyperkalemia, hyponatremia, and metabolic acidosis, and these conditions were unresponsive to initial management including hydrocortisone. Laboratory findings showed markedly elevated plasma renin and aldosterone levels, with no evidence of congenital adrenal hyperplasia or other metabolic disorders. Whole\u2010exome sequencing revealed compound heterozygous mutations in the\n                      <jats:italic>SCNN1B<\/jats:italic>\n                      gene: a splice\u2010site variant (c.585+2T&gt;C) inherited from the mother and a missense variant (c.1544T&gt;C, p.Ile515Thr) from the father. Both mutations are novel and were confirmed by Sanger sequencing. Diagnosis of systemic PHA1B2 was established. Treatment with oral sodium chloride, sodium citrate, and potassium\u2010binding resins led to gradual correction of electrolyte imbalance and clinical stabilization.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These are the first reported Chinese cases of neonatal\u2010onset PHA1B due to novel compound heterozygous SCNN1B mutations. This report broadens the mutational spectrum of SCNN1B and underscores the importance of early genetic testing in refractory neonatal electrolyte disturbances.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70173","type":"journal-article","created":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T03:26:47Z","timestamp":1766978807000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Compound Heterozygous\n                    <scp>\n                      <i>SCNN1B<\/i>\n                    <\/scp>\n                    Mutations Causing Pseudohypoaldosteronism Type\n                    <scp>1B2<\/scp>\n                    in Neonatal Twins"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7456-3350","authenticated-orcid":false,"given":"Zhiping","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neonatology Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijuan","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Neonatology Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongjuan","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Neonatology Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1530\/edm\u201021\u20100010"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvab095"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/edm\u201013\u20100010"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/hypertensionaha.121.18513"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000498860"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396\u2010248"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2024.09.001"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102012\u20100083"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102265.2005.02255.x"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2010.01.002"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418\u2010011\u20100904\u20101"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/966"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102018\u20100538"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2008.06.013"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418\u2010016\u20101535\u20103"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.12.061"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2021.2020.0175"},{"key":"e_1_2_12_19_1","first-page":"268","article-title":"Systemic Pseudohypoaldosteronism Type 1 due to a Novel Mutation in SCNN1B Gene: A Case Report","volume":"33","author":"Joshi K.","year":"2022","journal-title":"electronic Journal of the IFCC"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2020.2020.0107"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.831284"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1530\/edm\u201015\u20100104"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.23918"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/clinpract11040102"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.7.8674"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100039\u20101700950"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2024.2024\u201010\u20105"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.293"},{"key":"e_1_2_12_29_1","first-page":"605","article-title":"A Case Report and Literature Review of Systemic Pseudohypoaldosteronism Type I Caused by SCNN1B Gene Mutation","volume":"37","author":"Yang H. 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