{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T21:42:36Z","timestamp":1774129356006,"version":"3.50.1"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T00:00:00Z","timestamp":1691107200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the <jats:italic>GATA3<\/jats:italic> gene. We report an 11-year-old girl with HDR syndrome caused by a heterozygous mutation located at the splice acceptor site of exon 5 of the <jats:italic>GATA3<\/jats:italic> gene (NM_001002295.2: c.925-1G&amp;gt;T). Functional studies using a minigene assay showed that this splice site mutation abolished the normal splicing of the <jats:italic>GATA3<\/jats:italic> pre-mRNA and led to the use of a cryptic splice acceptor site, resulting in the loss of the first seven nucleotides (TCTGCAG) of exon 5 in the <jats:italic>GATA3<\/jats:italic> mRNA. These findings increase the understanding of the mechanisms by which <jats:italic>GATA3<\/jats:italic> splicing mutations can cause HDR syndrome.<\/jats:p>","DOI":"10.3389\/fendo.2023.1207425","type":"journal-article","created":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T12:12:13Z","timestamp":1691151133000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site"],"prefix":"10.3389","volume":"14","author":[{"given":"Catarina I.","family":"Gon\u00e7alves","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josianne N.","family":"Carri\u00e7o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omneya 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