{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T11:54:44Z","timestamp":1774439684220,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"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":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>KCNJ10<\/jats:italic>\n                      gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural deafness, ataxia, intellectual impairment and electrolyte imbalances.\n                      <jats:italic>KCNJ10<\/jats:italic>\n                      encodes an inwardly rectifying potassium channel Kir4.1, which is essential for preserving potassium ion homeostasis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We assessed three Iranian families with SeSAME syndrome\u2013like symptoms through whole\u2010exome sequencing (WES). Segregation analysis and Sanger sequencing were also used to confirm identified mutations. Additionally, bioinformatic tools were utilised to predict the pathogenicity of the variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two novel\n                      <jats:italic>KCNJ10<\/jats:italic>\n                      mutations, c.967\u2009T&gt;C (p.Y323H) and c.352G&gt;A (p.A118T) in three families. While there was no evidence of renal involvement, the probands from these families displayed early\u2010onset seizures, ataxia, developmental delays and hearing abnormalities. Based on the Kir4.1 protein's structural modelling, the stability of the channel is influenced by both mutations. Precisely, p.A118T alters the transmembrane domain that is critical to channel operation, whereas p.Y323H modifies the cytoplasmic C\u2010terminal domain, which may compromise intracellular localisation and regulation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our findings can expand the spectrum of mutations in the\n                      <jats:italic>KCNJ10<\/jats:italic>\n                      gene and provide insight into the genotype\u2013phenotype correlation in the SeSAME syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70194","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T03:11:12Z","timestamp":1771816272000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Mutations in\n                    <scp>KCNJ10<\/scp>\n                    Gene Associated With\n                    <scp>SeSAME<\/scp>\n                    Syndrome: Rare Disorder With Possible Common Mutation"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7336-1522","authenticated-orcid":false,"given":"Shayan","family":"Shakeri","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanaz","family":"Mohammadi","sequence":"additional","affiliation":[{"name":"Comprehensive Medical Genetic Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Forough","family":"Sadeghipour","sequence":"additional","affiliation":[{"name":"Comprehensive Medical Genetic Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Masoudi","sequence":"additional","affiliation":[{"name":"Comprehensive Medical Genetic Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2608-464X","authenticated-orcid":false,"given":"Mona","family":"Entezam","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences  Shiraz 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