{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:20Z","timestamp":1791041900394,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T00:00:00Z","timestamp":1716163200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases. <jats:italic>DHX37<\/jats:italic> is an RNA helicase that has recently been reported as a cause of SRXY11. So far, a total of 21 variants in <jats:italic>DHX37<\/jats:italic> have been reported in 58 cases with 46,XY disorders of sex development (DSD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing (WES) was conducted to screen for variations in patients with 46,XY DSD. The subcellular localization of mutant DHX37 proteins was detected by immunofluorescence. And the levels of mutant DHX37 proteins were detected via Western blotting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel pathogenic variant of <jats:italic>DHX37<\/jats:italic> was identified in a patient with 46,XY DSD c.2012G\u2009&gt;\u2009C (p.Arg671Thr). Bioinformatics analysis showed that the protein function of the variant was impaired. Compared with the structure of the wild\u2010type DHX37 protein, the number of hydrogen bonds and interacting amino acids of the variant protein were changed to varying degrees. In\u00a0vitro assays revealed that the variant had no significant effect on the intracellular localization of the protein but significantly reduced the expression level of the protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our finding further expands the spectrum of the <jats:italic>DHX37<\/jats:italic> variant and could assist in the molecular diagnosis of 46,XY DSD patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2453","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T06:59:29Z","timestamp":1716274769000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification and functional analysis of a rare variant of gene <scp><i>DHX37<\/i><\/scp> in a patient with 46,<scp>XY<\/scp> disorders of sex development"],"prefix":"10.1002","volume":"12","author":[{"given":"Wei","family":"Jiang","sequence":"first","affiliation":[{"name":"Sichuan 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