{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:55:49Z","timestamp":1753890949623,"version":"3.41.2"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T00:00:00Z","timestamp":1637107200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the <jats:italic>TRIOBP<\/jats:italic> gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton and are responsible for the proper structure and function of stereocilia in the inner ear. This study aimed to identify pathogenic variants in a patient with HL. Genomic DNA obtained from a 33-year-old woman with HL was evaluated using a disease-targeted gene panel. Using next generation sequencing and bioinformatics analysis, we identified two novel <jats:italic>TRIOBP<\/jats:italic> c.1170delC (p.S391Pfs*488) and c.3764C &amp;gt; G (p.S1255*) variants. Both parents of the patient were heterozygous carriers of the gene. The two variants have not been reported in general population databases or published literature. The findings of this study will broaden the spectrum of pathogenic variants in the <jats:italic>TRIOBP<\/jats:italic> gene.<\/jats:p>","DOI":"10.3389\/fgene.2021.766973","type":"journal-article","created":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T07:21:05Z","timestamp":1637133665000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family"],"prefix":"10.3389","volume":"12","author":[{"given":"Cong","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanbing","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,11,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"20070","DOI":"10.1073\/pnas.2009628117","article-title":"Genomic Analysis of Inherited Hearing Loss in the Palestinian Population","volume":"117","author":"Abu Rayyan","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"B2","doi-asserted-by":"publisher","first-page":"5256","DOI":"10.1021\/bi400585h","article-title":"R1 Motif Is the Major Actin-Binding Domain of TRIOBP-4","volume":"52","author":"Bao","year":"2013","journal-title":"Biochemistry"},{"key":"B3","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.canlet.2014.08.005","article-title":"The Actin-Bundling Protein TRIOBP-4 and -5 Promotes the Motility of Pancreatic Cancer Cells","volume":"28356","author":"Bao","year":"2015","journal-title":"Cancer Lett."},{"key":"B4","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1111\/cge.13754","article-title":"Comprehensive Molecular Analysis of 61 Egyptian Families with Hereditary Nonsyndromic Hearing Loss","volume":"98","author":"Birgit","year":"2020","journal-title":"Clin. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"e111196","DOI":"10.1371\/journal.pone.0111196","article-title":"Aggregation of the Protein TRIOBP-1 and its Potential Relevance to Schizophrenia","volume":"9","author":"Bradshaw","year":"2014","journal-title":"PLoS One"},{"key":"B6","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1097\/01.AUD.0000079804.00047.CE","article-title":"Recent Advances in the Understanding of Syndromic Forms of Hearing Loss","volume":"24","author":"Friedman","year":"2003","journal-title":"Ear Hear"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e128561","DOI":"10.1172\/jci.insight.128561","article-title":"TRIOBP-5 Sculpts Stereocilia Rootlets and Stiffens Supporting Cells Enabling Hearing","volume":"204","author":"Katsuno","year":"2019","journal-title":"JCI Insight"},{"key":"B8","doi-asserted-by":"publisher","first-page":"786","DOI":"10.1016\/j.cell.2010.03.049","article-title":"Actin-bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing","volume":"141","author":"Kitajiri","year":"2010","journal-title":"Cell"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.1186\/s12920-018-0395-1","article-title":"Whole Exome Sequencing in Adult-Onset Hearing Loss Reveals a High Load of Predicted Pathogenic Variants in Known Deafness-Associated Genes and Identifies New Candidate Genes","volume":"11","author":"Lewis","year":"2018","journal-title":"BMC Med. Genomics"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e71381","DOI":"10.1371\/journal.pone.0071381","article-title":"Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients","volume":"8","author":"Miyagawa","year":"2013","journal-title":"PLoS One"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn Hearing Screening - A Silent Revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"B12","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1016\/s0030-6665(02)00053-1","article-title":"Etiology of Syndromic and Nonsyndromic Sensorineural Hearing Loss","volume":"35","author":"Nicolas","year":"2002","journal-title":"Otolaryngol. Clin. North. Am."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1002\/humu.23630","article-title":"Expert Specification of the ACMG\/AMP Variant Interpretation Guidelines for Genetic Hearing Loss","volume":"39","author":"Oza","year":"2018","journal-title":"Hum. Mutat."},{"key":"B14","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1186\/s12881-017-0499-z","article-title":"Whole Exome Sequencing Identifies TRIOBP Pathogenic Variants as a Cause of post-lingual Bilateral Moderate-To-Severe Sensorineural Hearing Loss","volume":"18","author":"Pollak","year":"2017","journal-title":"BMC Med. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1086\/499164","article-title":"Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness","volume":"78","author":"Riazuddin","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/humu.23666","article-title":"Global Genetic Insight Contributed by Consanguineous Pakistani Families Segregating Hearing Loss","volume":"40","author":"Richard","year":"2019","journal-title":"Hum. Mutat."},{"key":"B17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B18","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1086\/499495","article-title":"Mutations in a Novel Isoform of TRIOBP that Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss","volume":"78","author":"Shahin","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2018\/3103986","article-title":"Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis","volume":"2018","author":"Shang","year":"2018","journal-title":"Biomed. Res. Int."},{"key":"B20","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1186\/gm554","article-title":"Copy Number Variants Are a Common Cause of Non-syndromic Hearing Loss","volume":"6","author":"Shearer","year":"2014","journal-title":"Genome Med."},{"key":"B21","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","article-title":"Comprehensive Genetic Testing in the Clinical Evaluation of 1119 Patients with Hearing Loss","volume":"135","author":"Sloan-Heggen","year":"2016","journal-title":"Hum. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1002\/humu.22999","article-title":"DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System","volume":"37","author":"Sommen","year":"2016","journal-title":"Hum. Mutat."},{"key":"B23","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1111\/cge.13638","article-title":"Whole-exome Sequencing Identifies Rare Pathogenic and Candidate Variants in Sporadic Chinese Han Deaf Patients","volume":"97","author":"Songfeng","year":"2019","journal-title":"Clin. Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"e14860","DOI":"10.1097\/MD.0000000000014860","article-title":"Panel-based NGS Reveals Disease-Causing Mutations in Hearing Loss Patients Using BGISEQ-500 Platform","volume":"98","author":"Sun","year":"2019","journal-title":"Medicine (Baltimore)"},{"key":"B25","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1038\/ejhg.2016.146","article-title":"Clinical Exome Sequencing: Results from 2819 Samples Reflecting 1000 Families","volume":"25","author":"Trujillano","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1007\/s00439-016-1697-z","article-title":"Spectrum of DNA Variants for Non-syndromic Deafness in a Large Cohort from Multiple Continents","volume":"135","author":"Yan","year":"2016","journal-title":"Hum. Genet."},{"key":"B27","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1038\/s41431-019-0510-6","article-title":"Comprehensive Genetic Testing of Chinese SNHL Patients and Variants Interpretation Using ACMG Guidelines and Ethnically Matched normal Controls","volume":"28","author":"Yuan","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"4967","DOI":"10.3390\/molecules25214967","article-title":"The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer","volume":"25","author":"Zaharija","year":"2020","journal-title":"Molecules"},{"key":"B29","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1038\/ejhg.2016.182","article-title":"The Diagnostic Yield of Whole-Exome Sequencing Targeting a Gene Panel for Hearing Impairment in The Netherlands","volume":"25","author":"Zazo Seco","year":"2017","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2021.766973\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T07:21:10Z","timestamp":1637133670000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2021.766973\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,17]]},"references-count":29,"alternative-id":["10.3389\/fgene.2021.766973"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2021.766973","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2021,11,17]]},"article-number":"766973"}}