{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:54:55Z","timestamp":1790913295413,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neuromuscular oculoauditory syndrome (NMOAS; OMIM# 618733) is a rare neurodevelopmental disorder caused by heterozygous variants in\n                    <jats:italic>DHX16<\/jats:italic>\n                    , a gene in the DExD\/H\u2010box RNA helicase family. Despite increasing reports of DHX16\u2010related NMOAS, the functional impact of specific variants on RNA splicing remains poorly understood. In this study, whole\u2010exome sequencing identified a de novo DHX16 variant (c.1360C&gt;G, p.Arg454Gly) in a 2\u2010year\u2010old boy with NMOAS. In\u00a0vitro assays revealed aberrant intron retention in HSPH1 and FOS transcripts in cells expressing the mutant DHX16\u20101360G, suggesting impaired splicing efficiency. Longitudinal clinical follow\u2010up uncovered progressive multisystem involvement, including delayed gonadal development and autism spectrum disorder phenotypes not previously linked to DHX16. These findings expand the genotypic and phenotypic spectrum of NMOAS, confirm the pathogenic role of this variant in splicing dysregulation, and emphasize the need for long\u2010term monitoring of emerging comorbidities in affected patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.70222","type":"journal-article","created":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T00:40:27Z","timestamp":1786063227000},"page":"598-604","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A De Novo\n                    <i>DHX16<\/i>\n                    Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre\u2010\n                    <scp>mRNA<\/scp>\n                    Splicing In\u00a0Vitro"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2797-9178","authenticated-orcid":false,"given":"Yue","family":"Shen","sequence":"first","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunyu","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Lu","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4290-8928","authenticated-orcid":false,"given":"Zongfu","family":"Cao","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufei","family":"Yu","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Cheng","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7236-0193","authenticated-orcid":false,"given":"Huafang","family":"Gao","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing 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