{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:56:58Z","timestamp":1792627018297,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T00:00:00Z","timestamp":1729468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hearing loss (HL) is the most prevalent sensorineural disorders, affecting about one in 1000 newborns. Over half of the cases are attributed to genetic factors; however, due to the extensive clinical and genetic heterogeneity, many cases remain without a conclusive genetic diagnosis. The advent of next\u2010generation sequencing methodologies in recent years has greatly helped unravel the genetic etiology of HL by identifying numerous genes and causative variants. Despite this, much remains to be uncovered about the genetic basis of sensorineural hearing loss (SNHL). Here, we report an Iranian consanguineous family with postlingual, moderate\u2010to\u2010severe autosomal recessive SNHL. After first excluding plausible variants in known deafness\u2010causing genes using whole exome sequencing, we reanalyzed the data, using a gene\/variant prioritization pipeline established for novel gene discovery for HL. This approach identified a novel homozygous frameshift variant c.1934_1937del; (p.Thr645Lysfs*52) in\n                    <jats:italic>ANKRD24<\/jats:italic>\n                    , which segregated with the HL phenotype in the family. Recently, ANKRD24 has been shown to be a pivotal constituent of the stereocilia rootlet in cochlea hair cells and interacts with TRIOBP, a protein already implicated in human deafness. Our data implicate for the first time,\n                    <jats:italic>ANKRD24<\/jats:italic>\n                    in human nonsyndromic HL (NSHL) and expands the genetic spectrum of HL.\n                  <\/jats:p>","DOI":"10.1111\/cge.14635","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T02:35:06Z","timestamp":1729564506000},"page":"214-218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Frameshift Variant in\n                    <i>ANKRD24<\/i>\n                    Implicates Its Role in Human Non\u2010Syndromic Hearing Loss"],"prefix":"10.1111","volume":"107","author":[{"given":"Negar","family":"Kazemi","sequence":"first","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raziye","family":"Rezvani Rezvandeh","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzane","family":"Zare Ashrafi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebrahim","family":"Shokouhian","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9139-9632","authenticated-orcid":false,"given":"Masoud","family":"Edizadeh","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Genoks Genetic Diagnosis Center  Ankara Turkey"},{"name":"Ilyome Bioinformatics  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin T. A.","family":"Booth","sequence":"additional","affiliation":[{"name":"Department of Medical &amp; Molecular Genetics Indiana University  Indianapolis Indiana USA"},{"name":"Department of Otolaryngology, Head &amp; Neck Surgery Indiana University  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6587-7706","authenticated-orcid":false,"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":false,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1200-4044","authenticated-orcid":false,"given":"Marzieh","family":"Mohseni","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,21]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"\u201cDeafness and Hearing Loss \u201d World Health Organization accessed February 2 2024 https:\/\/www.who.int\/news\u2010room\/fact\u2010sheets\/detail\/deafness\u2010and\u2010hearing\u2010loss."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010021\u201002421\u2010w"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010018\u20101901\u20104"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13956"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.006"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105349"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103389"},{"key":"e_1_2_7_9_1","unstructured":"W. D. A. H.WallsandR. J. H.Smith \u201cHereditary Hearing Loss Homepage \u201d2024 https:\/\/hereditaryhearingloss.org."},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23880"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010021\u201000835\u20109"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010020\u201020584\u20104"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41556\u2010019\u20100381\u20107"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202109134"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.03.049"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092\u20108674(00)80542\u20105"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genet\u2010112414\u2010054639"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T22:42:11Z","timestamp":1736721731000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,21]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1111\/cge.14635"],"URL":"https:\/\/doi.org\/10.1111\/cge.14635","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14635\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14635\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14635\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14635\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14635\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,21]]},"assertion":[{"value":"2024-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}