{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T20:21:46Z","timestamp":1773606106393,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>A &lt;i&gt;GATA4&lt;\/i&gt; haploinsufficiency has been well described in patients with congenital heart defects (CHDs), whilst only a few studies have reported mutations related to a 46,XY disorder of sex development (DSD) phenotype. This study investigated the clinical phenotypes and molecular characteristics of two 46,XY DSD patients harboring &lt;i&gt;GATA4&lt;\/i&gt; variants. Mutation analysis was performed using a targeted gene panel or whole-exome sequencing. The transactivation activity of each variant protein was examined by in vitro luciferase reporter assay using the &lt;i&gt;AMH&lt;\/i&gt; and &lt;i&gt;SRY&lt;\/i&gt; promoters. Subject 1 presented with a micropenis and hypospadias. Subject 2 showed complete female external genitalia with a 46,XY karyotype. Both patients were responsive to hCG stimulation tests and did not manifest CHD. A novel heterozygous variant, c.643A&gt;G (p.R215G), in &lt;i&gt;GATA4&lt;\/i&gt; was identified in Subject 1, whereas Subject 2 harbored a previously reported variant, c.1220C&gt;A (p.P407Q), in &lt;i&gt;GATA4&lt;\/i&gt; and a previously known pathogenic mutation, i.e., c.226C&gt;T (p.Q76*) in the &lt;i&gt;AR&lt;\/i&gt; gene. The reporter assays using the &lt;i&gt;SRY&lt;\/i&gt; and &lt;i&gt;AMH&lt;\/i&gt; promoters revealed decreased transcriptional activity of both p.P407Q and p.R215G. However, the &lt;i&gt;GATA4&lt;\/i&gt; p.P407Q variant was classified as likely benign. In conclusion, it is essential to integrate clinical features and endocrine findings when interpreting sequence variants.<\/jats:p>","DOI":"10.1159\/000511258","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T21:02:01Z","timestamp":1601413321000},"page":"240-245","source":"Crossref","is-referenced-by-count":8,"title":["Molecular Characteristics of Sequence Variants in &lt;b&gt;&lt;i&gt;GATA4&lt;\/i&gt;&lt;\/b&gt; in Patients with 46,XY Disorders of Sex Development without Cardiac Defects"],"prefix":"10.1159","volume":"13","author":[{"given":"Jin-Ho","family":"Choi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yena","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arum","family":"Oh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,9,26]]},"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/511258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/511258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:05:07Z","timestamp":1745424307000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000511258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":0,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2020,10,26]]},"published-print":{"date-parts":[[2020,11,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000511258","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}