{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T07:30:16Z","timestamp":1725348616544},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0165_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the <jats:italic>TRPM6<\/jats:italic>. Most of the identified variants in <jats:italic>TRPM6<\/jats:italic> lead to premature termination: nonsense, frameshift, deletion, and splice site mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0165_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Herein, we report a 1.5 month-old case who presented with convulsion due to hypocalcemia and hypomagnesemia in the early infancy. Sequencing of <jats:italic>TRPM6<\/jats:italic> revealed a novel homozygous synonymous variant [c.2538G &gt; A (p.Thr846Thr)] in the last codon of exon 19, which is most likely to affect the splicing. We report a novel homozygous synonymous variant in the <jats:italic>TRPM6<\/jats:italic> leading to HOMG1, expanding the mutational spectrum.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0165_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Synonymous mutations that were previously considered as harmless should be evaluated at the nucleotide level, keeping in mind that they may affect splicing and cause to the disease.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0165","type":"journal-article","created":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T22:14:55Z","timestamp":1626300895000},"page":"1481-1486","source":"Crossref","is-referenced-by-count":1,"title":["A novel synonymous homozygous variant [c.2538G&gt;A (p.Thr846Thr)] in <i>TRPM6<\/i> in a patient with hypomagnesemia with secondary hypocalcemia"],"prefix":"10.1515","volume":"34","author":[{"given":"Sezer","family":"Acar","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl Peter","family":"Schlingmann","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics , University Children\u2019s Hospital , M\u00fcnster , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem","family":"Nalbanto\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zge","family":"K\u00f6pr\u00fcl\u00fc","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcl\u00e7in","family":"Arslan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beyhan","family":"\u00d6zkaya","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behzat","family":"\u00d6zkan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,7,15]]},"reference":[{"key":"2023040101375939562_j_jpem-2021-0165_ref_001","doi-asserted-by":"crossref","unstructured":"Seo, JW, Park, TJ. 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