{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T08:04:56Z","timestamp":1788249896291,"version":"build-2803163510"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000055","name":"U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["NIH R01DC009645"],"award-info":[{"award-number":["NIH R01DC009645"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1038\/s41431-024-01562-6","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T08:02:05Z","timestamp":1708329725000},"page":"639-646","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2"],"prefix":"10.1038","volume":"32","author":[{"given":"Memoona","family":"Ramzan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Faraz","family":"Zafeer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9434-1337","authenticated-orcid":false,"given":"Clemer","family":"Abad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengru","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Owrang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozgul","family":"Alper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9022-921X","authenticated-orcid":false,"given":"Ahmet","family":"Mutlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Duman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guney","family":"Bademci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6719-3447","authenticated-orcid":false,"given":"Barbara","family":"Vona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmut Tayyar","family":"Kalcioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1296-5286","authenticated-orcid":false,"given":"Katherina","family":"Walz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3525-7960","authenticated-orcid":false,"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,19]]},"reference":[{"key":"1562_CR1","doi-asserted-by":"crossref","unstructured":"McGinniss MJ, Kaback MM. Heterozygote testing and carrier screening. Emery and Rimoin\u2019s principles and practice of medical genetics: Elsevier; 2013. p. 1\u201310.","DOI":"10.1016\/B978-0-12-383834-6.00031-8"},{"key":"1562_CR2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1171","volume":"8","author":"A Pandya","year":"2020","unstructured":"Pandya A, O\u2019Brien A, Kovasala M, Bademci G, Tekin M, Arnos KS. Analyses of del (GJB6\u2010D13S1830) and del (GJB6\u2010D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families. Mol Genet Genom Med. 2020;8:e1171.","journal-title":"Mol Genet Genom Med"},{"key":"1562_CR3","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1080\/16513860301713","volume":"1","author":"M Mazzoli","year":"2003","unstructured":"Mazzoli M, Van Camp G, Newton V, Giarbini N, Declau F, Parving A. Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Audiol Med. 2003;1:148\u201350.","journal-title":"Audiol Med"},{"key":"1562_CR4","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1101\/gr.138115.112","volume":"22","author":"N Krumm","year":"2012","unstructured":"Krumm N, Sudmant PH, Ko A, O\u2019Roak BJ, Malig M, Coe BP, et al. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012;22:1525\u201332.","journal-title":"Genome Res"},{"key":"1562_CR5","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","volume":"32","author":"X Chen","year":"2016","unstructured":"Chen X, Schulz-Trieglaff O, Shaw R, Barnes B, Schlesinger F, K\u00e4llberg M, et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics. 2016;32:1220\u20132.","journal-title":"Bioinformatics"},{"key":"1562_CR6","doi-asserted-by":"publisher","first-page":"i333","DOI":"10.1093\/bioinformatics\/bts378","volume":"28","author":"T Rausch","year":"2012","unstructured":"Rausch T, Zichner T, Schlattl A, St\u00fctz AM, Benes V, Korbel JO. DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics. 2012;28:i333\u2013i9.","journal-title":"Bioinformatics"},{"key":"1562_CR7","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1101\/gr.114876.110","volume":"21","author":"A Abyzov","year":"2011","unstructured":"Abyzov A, Urban AE, Snyder M, Gerstein M. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res. 2011;21:974\u201384.","journal-title":"Genome Res"},{"key":"1562_CR8","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201323.","journal-title":"Genet Med"},{"key":"1562_CR9","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1002\/humu.23630","volume":"39","author":"AM Oza","year":"2018","unstructured":"Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, et al. Expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39:1593\u2013613.","journal-title":"Hum Mutat"},{"key":"1562_CR10","doi-asserted-by":"publisher","first-page":"1734","DOI":"10.1002\/humu.24088","volume":"41","author":"SV Tavtigian","year":"2020","unstructured":"Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines. Hum Mutat.2020;41:1734\u20137.","journal-title":"Hum Mutat"},{"key":"1562_CR11","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1002\/humu.22844","volume":"36","author":"N Sobreira","year":"2015","unstructured":"Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36:928\u201330.","journal-title":"Hum Mutat"},{"key":"1562_CR12","doi-asserted-by":"crossref","unstructured":"Tollefson MR, Gogal RA, Weaver AM, Schaefer AM, Marini RJ, Azaiez H, et al. Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome. Hum Genet. 2023;142:819\u201334.","DOI":"10.1007\/s00439-023-02559-9"},{"key":"1562_CR13","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1089\/crispr.2021.0113","volume":"5","author":"D Conant","year":"2022","unstructured":"Conant D, Hsiau T, Rossi N, Oki J, Maures T, Waite K, et al. Inference of CRISPR edits from Sanger trace data. CRISPR J. 2022;5:123\u201330.","journal-title":"CRISPR J"},{"key":"1562_CR14","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1083\/jcb.200510043","volume":"171","author":"J Ikenouchi","year":"2005","unstructured":"Ikenouchi J, Furuse M, Furuse K, Sasaki H, Tsukita S, Tsukita S. Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. J Cell Biol. 2005;171:939\u201345.","journal-title":"J Cell Biol"},{"key":"1562_CR15","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492","volume":"381","author":"J Cheng","year":"2023","unstructured":"Cheng J, Novati G, Pan J, Bycroft C, \u017demgulyt\u0117 A, Applebaum T, et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science. 2023;381:eadg7492.","journal-title":"Science"},{"key":"1562_CR16","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-39306-7","volume":"14","author":"MC Danzi","year":"2023","unstructured":"Danzi MC, Dohrn MF, Fazal S, Beijer D, Rebelo AP, Cintra V, et al. Deep structured learning for variant prioritization in Mendelian diseases. Nat Commun. 2023;14:4167.","journal-title":"Nat Commun"},{"key":"1562_CR17","doi-asserted-by":"publisher","first-page":"1627","DOI":"10.1093\/hmg\/3.9.1627","volume":"3","author":"DT Bonthron","year":"1994","unstructured":"Bonthron DT, Brady N, Donaldson LA, Steinmann B. Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Hum Mol Genet. 1994;3:1627\u201331.","journal-title":"Hum Mol Genet"},{"key":"1562_CR18","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.molmed.2005.12.006","volume":"12","author":"C Petit","year":"2006","unstructured":"Petit C. From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med. 2006;12:57\u201364.","journal-title":"Trends Mol Med"},{"key":"1562_CR19","doi-asserted-by":"publisher","first-page":"e32000","DOI":"10.1371\/journal.pone.0032000","volume":"7","author":"A Sirmaci","year":"2012","unstructured":"Sirmaci A, Edwards YJ, Akay H, Tekin M. Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One. 2012;7:e32000.","journal-title":"PLoS One"},{"key":"1562_CR20","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.ajhg.2015.06.009","volume":"97","author":"JX Chong","year":"2015","unstructured":"Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet. 2015;97:199\u2013215.","journal-title":"Am J Hum Genet"},{"key":"1562_CR21","doi-asserted-by":"crossref","unstructured":"Ramzan M, Duman D, Hendricks LCP, Guo S, Mutlu A, Kalcioglu MT, et al. Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss. J. Hum. Genet. 2023;68:1\u201313.","DOI":"10.1038\/s10038-023-01159-9"},{"key":"1562_CR22","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1038\/ejhg.2014.266","volume":"23","author":"AU Rehman","year":"2015","unstructured":"Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Morell RJ, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 2015;23:1207\u201315.","journal-title":"Eur J Hum Genet"},{"key":"1562_CR23","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1111\/cge.12856","volume":"91","author":"S Naz","year":"2017","unstructured":"Naz S, Imtiaz A, Mujtaba G, Maqsood A, Bashir R, Bukhari I, et al. Genetic causes of moderate to severe hearing loss point to modifiers. Clin Genet 2017;91:589\u201398.","journal-title":"Clin Genet"},{"key":"1562_CR24","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/humu.23666","volume":"40","author":"EM Richard","year":"2019","unstructured":"Richard EM, Santos\u2010Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 2019;40:53\u201372.","journal-title":"Hum Mutat"},{"key":"1562_CR25","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/jhg.2014.78","volume":"59","author":"Y Lu","year":"2014","unstructured":"Lu Y, Zhou X, Jin Z, Cheng J, Shen W, Ji F, et al. Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next-generation sequencing approaches. J Hum Genet. 2014;59:599\u2013607.","journal-title":"J Hum Genet"},{"key":"1562_CR26","doi-asserted-by":"publisher","first-page":"4248","DOI":"10.1091\/mbc.e15-08-0603","volume":"26","author":"A Das","year":"2015","unstructured":"Das A, Dickinson DJ, Wood CC, Goldstein B, Slep KC. Crescerin uses a TOG domain array to regulate microtubules in the primary cilium. Mol Biol Cell 2015;26:4248\u201364.","journal-title":"Mol Biol Cell"},{"key":"1562_CR27","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E21-09-0472","volume":"33","author":"K Perlaza","year":"2022","unstructured":"Perlaza K, Mirvis M, Ishikawa H, Marshall W. The short flagella 1 (SHF1) gene in Chlamydomonas encodes a Crescerin TOG-domain protein required for late stages of flagellar growth. Mol Bio Cell 2022;33:ar12.","journal-title":"Mol Bio Cell"},{"key":"1562_CR28","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1016\/j.molmed.2003.09.008","volume":"9","author":"IA Belyantseva","year":"2003","unstructured":"Belyantseva IA, Labay V, Boger ET, Griffith AJ, Friedman TB. Stereocilia: the long and the short of it. Trends Mol Med 2003;9:458\u201361.","journal-title":"Trends Mol Med"},{"key":"1562_CR29","doi-asserted-by":"crossref","unstructured":"Miyoshi T, Belyantseva IA, Kitajiri S-I, Miyajima H, Nishio S-Y, Usami S-I, et al. Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores. Hum. Genet. 2021;141:1-20.","DOI":"10.1007\/s00439-021-02304-0"},{"key":"1562_CR30","doi-asserted-by":"crossref","unstructured":"Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, et al. Tricellulin is a tight-junction protein necessary for hearing. Am. J. Hum. Genet. 2006;79:1040\u201351.","DOI":"10.1086\/510022"},{"key":"1562_CR31","doi-asserted-by":"crossref","unstructured":"Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, et al. Two frequent missense mutations in Pendred syndrome. Hum. Mol. Genet. 1998;7:1099\u2013104.","DOI":"10.1093\/hmg\/7.7.1099"},{"key":"1562_CR32","doi-asserted-by":"crossref","unstructured":"Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, et al. Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. Eur. J. Endocrinol. 2018;178:377\u201388.","DOI":"10.1530\/EJE-17-0568"},{"key":"1562_CR33","doi-asserted-by":"crossref","unstructured":"Vona B, Maroofian R, Mendiratta G, Croken M, Peng S, Ye X, et al. Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. Mol. Syndromol. 2017;9:5\u201314.","DOI":"10.1159\/000480458"},{"key":"1562_CR34","doi-asserted-by":"crossref","unstructured":"Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J. Hum. Genet. 2016;61:419\u201322.","DOI":"10.1038\/jhg.2015.168"},{"key":"1562_CR35","doi-asserted-by":"crossref","unstructured":"Cengiz FB, Duman D, Sirmaci A, Tokg\u00f6z-Yilmaz S, Erbek S, Ozt\u00fcrkmen-Akay H, et al. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet. Test. Mol. Biomarkers. 2010;14:543\u201350.","DOI":"10.1089\/gtmb.2010.0039"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01562-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01562-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01562-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T12:07:48Z","timestamp":1717589268000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01562-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,19]]},"references-count":35,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["1562"],"URL":"https:\/\/doi.org\/10.1038\/s41431-024-01562-6","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,19]]},"assertion":[{"value":"25 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 January 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 February 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 February 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study was approved by the Institutional Review Board at the University of Miami, USA, Ankara University Medical School Ethics Committee, Turkiye, Local Ethics Committee of Istanbul Medeniyet University, and Goztepe Training and Research Hospital Istanbul, Turkiye.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics declaration"}}]}}