{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:43:06Z","timestamp":1772160186523,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T00:00:00Z","timestamp":1643760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP19K22472"],"award-info":[{"award-number":["JP19K22472"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP21H02672"],"award-info":[{"award-number":["JP21H02672"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC000039"],"award-info":[{"award-number":["DC000039"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016275","name":"Seoul National University Bundang Hospital","doi-asserted-by":"publisher","award":["16\u20102020\u2010005"],"award-info":[{"award-number":["16\u20102020\u2010005"]}],"id":[{"id":"10.13039\/100016275","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016275","name":"Seoul National University Bundang Hospital","doi-asserted-by":"publisher","award":["13\u20102020\u2010013"],"award-info":[{"award-number":["13\u20102020\u2010013"]}],"id":[{"id":"10.13039\/100016275","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2021R1C1C1007980"],"award-info":[{"award-number":["2021R1C1C1007980"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2018R1A2B2001054"],"award-info":[{"award-number":["2018R1A2B2001054"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002462","name":"Chungnam National University","doi-asserted-by":"publisher","award":["IRB\u2010B\u20101007\u2010105\u2010402"],"award-info":[{"award-number":["IRB\u2010B\u20101007\u2010105\u2010402"]}],"id":[{"id":"10.13039\/501100002462","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Diaphanous\u2010related formin 1 (DIAPH1) is a formin homology F\u2010actin elongating protein encoded by\n                    <jats:italic>DIAPH1<\/jats:italic>\n                    . Homozygous recessive variants resulting in the loss of DIAPH1 function cause seizures, cortical blindness, and microcephaly syndrome (SCBMS), but hearing loss has not been reported. In contrast, dominant variants of human\n                    <jats:italic>DIAPH1<\/jats:italic>\n                    are associated with DFNA1 non\u2010syndromic sensorineural hearing loss. The deafness phenotype is due partly to abnormal F\u2010actin elongation activity caused by disruption of the DIAPH1 autoinhibitory mechanism. We report an elderly female heterozygous for the c.3145C&gt;T: p.R1049X variant who showed late\u2010onset sensorineural hearing loss in her fifth decade. p.R1049X lacks F\u2010actin elongation activity because this variant truncates one\u2010third of the FH2 domain, which is vital for DIAPH1 dimerization and processive F\u2010actin elongation activity. Concordantly, no increase of F\u2010actin or processive F\u2010actin elongation activity was observed after overexpression of p.R1049X DIAPH1 in HeLa cells or by single\u2010molecule microscopy using\n                    <jats:italic>Xenopus<\/jats:italic>\n                    XTC cells. However, overexpression of the p.R1049X variant impairs formation of cell\u2013cell junctions and mitosis. We speculate that late\u2010onset hearing loss is a long\u2010term consequence of heterozygosity for the recessive p.R1049X variant, a phenotype that may have been overlooked among carriers of other recessive alleles of\n                    <jats:italic>DIAPH1<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.14115","type":"journal-article","created":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T03:43:33Z","timestamp":1642736613000},"page":"466-471","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Late\u2010onset hearing loss case associated with a heterozygous truncating variant of\n                    <scp>\n                      <i>DIAPH1<\/i>\n                    <\/scp>"],"prefix":"10.1111","volume":"101","author":[{"given":"Bong Jik","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Chungnam National University College of Medicine, Chungnam National University Sejong Hospital  Sejong Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takushi","family":"Miyoshi","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders, National Institutes of Health  Bethesda Maryland USA"},{"name":"Department of Otolaryngology \u2010 Head and Neck Surgery Graduate School of Medicine, Kyoto University  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taimur","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas B.","family":"Friedman","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Yoon","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Seoul National University Bundang Hospital  Seongnam Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takehiko","family":"Ueyama","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pharmacology Biosignal Research Center, Kobe University  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5341.1315"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201606609"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-10-675629"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12915"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38411"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2018020370"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8020092"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2020.109947"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106282"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37422"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.82"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2020.12.656"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-020-02743-z"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb3525"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08957-w"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201491"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.3109\/14992027.2014.887230"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1266\/ggs.16-00041"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.087411"}],"container-title":["Clinical 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