{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T20:36:28Z","timestamp":1780518988331,"version":"3.54.1"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T00:00:00Z","timestamp":1607558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal dominant hearing loss (ADHL) accounts for about 20% of all hereditary non\u2010syndromic HL. Truncating mutations of the <jats:italic>EYA4<\/jats:italic> gene can cause either non\u2010syndromic ADHL or syndromic ADHL with cardiac abnormalities. It has been proposed that truncations of the C\u2010terminal Eya domain lead to non\u2010syndromic HL, whereas early truncations of the N\u2010terminal variable region cause syndromic HL with cardiac phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. The cardiac phenotype was examined by ECG and echocardiography. Their DNA was subjected to target exome sequencing of 129 known deafness genes. The sequencing data were analyzed and the candidate variants were interpreted following the ACMG guidelines for clinical sequence interpretation. The effect of candidate variant on <jats:italic>EYA4<\/jats:italic> gene expression was assessed by quantitative PCR and western blot of gene production in blood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report a Chinese family cosegregating post\u2010lingual onset, progressive ADHL with a novel nonsense mutation NM_004100.4:c.543C&gt;G (p.Tyr181Ter) of <jats:italic>EYA4<\/jats:italic>. Two affected members show no cardiac abnormalities at least until now revealed by electrocardiography and echocardiography. The overall expression level of the <jats:italic>EYA4<\/jats:italic> gene in the proband was lower than that in his unaffected relative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report expands the mutational spectrum of the <jats:italic>EYA4<\/jats:italic> gene and highlights the fact that more data are needed to elucidate the complex genotype\u2013phenotype correlation of <jats:italic>EYA4<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1569","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T02:16:39Z","timestamp":1607652999000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Early truncation of the N\u2010terminal variable region of <i>EYA4<\/i> gene causes dominant hearing loss without cardiac phenotype"],"prefix":"10.1002","volume":"9","author":[{"given":"Yanfang","family":"Mi","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danhua","family":"Liu","sequence":"additional","affiliation":[{"name":"Precision Medicine Center Academy of Medical Science, Zhengzhou University Zhengzhou China"},{"name":"The Second Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beiping","family":"Zeng","sequence":"additional","affiliation":[{"name":"BGI College, Zhengzhou University Zhengzhou China"},{"name":"Henan Institute of Medical and Pharmaceutical Sciences Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongan","family":"Tian","sequence":"additional","affiliation":[{"name":"BGI College, Zhengzhou University Zhengzhou China"},{"name":"Henan Institute of Medical and Pharmaceutical Sciences Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology The First Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanli","family":"Zhang","sequence":"additional","affiliation":[{"name":"Henan Province Medical Instrument Testing Institute Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Xue","sequence":"additional","affiliation":[{"name":"Sanglin Biotechnology Ltd Zhengzhou 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