{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:59:28Z","timestamp":1777726768840,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>Herein, we report the clinical and genetic features of a patient with Usher syndrome type IB to improve our collective understanding of the disorder. The patient was a teenaged boy with congenital profound hearing loss, progressive visual loss, and vestibular hypoplasia; his parents were phenotypically normal. His pure tone audiometry hearing thresholds were 100 dB at all frequencies, and distortion product otoacoustic emission was not elicited at any frequencies in either ear. Moreover, an auditory brainstem response test at 100 dB normal hearing level revealed no relevant response waves, and a caloric test showed vestibular hypoplasia. Fundus examination revealed retinitis pigmentosa and a reduced visual field. The use of high-throughput sequencing technology to screen the patient\u2019s family lineage for deafness-related genes revealed that the patient carried a compound heterozygous pathogenic variant of MYO7A: c.541C\u2009&gt;\u2009T and c.6364delG. This pathogenic variant has not previously been reported. Our findings may provide a basis for genetic counseling, effective treatment, and\/or gene therapy for Usher syndrome.<\/jats:p>","DOI":"10.1177\/03000605231218924","type":"journal-article","created":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T19:08:21Z","timestamp":1703358501000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel compound heterozygous pathogenic variant in\n                    <i>MYO7A<\/i>\n                    causing Usher syndrome type IB in a Chinese patient: a case report"],"prefix":"10.1177","volume":"51","author":[{"given":"Ya\u2019nan","family":"Zhang","sequence":"first","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Traditional Chinese Medicine, Changchun, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyi","family":"Guo","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Traditional Chinese Medicine, Changchun, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head & Neck Surgery, The First Hospital of Changchun University of Traditional Chinese Medicine, Changchun, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meihui","family":"Tian","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Traditional Chinese Medicine, Changchun, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Ma","sequence":"additional","affiliation":[{"name":"College of Basic Medical Science, Changchun University of Traditional Chinese Medicine, Changchun, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6387-953X","authenticated-orcid":false,"given":"Yong","family":"Tang","sequence":"additional","affiliation":[{"name":"College of Clinical Medicine, Changchun University of Traditional Chinese Medicine, Changchun, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,12,23]]},"reference":[{"key":"bibr1-03000605231218924","unstructured":"WHO. Deafness and hearing loss, www.who.int\/health-topics\/hearing-loss (2022)."},{"key":"bibr2-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2020.05.001"},{"key":"bibr3-03000605231218924","first-page":"27","volume":"36","author":"Liu J","year":"2022","journal-title":"Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"bibr4-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-018-2654-8"},{"key":"bibr5-03000605231218924","unstructured":"Sciences TUoAH. Hereditary ocular disease, https:\/\/disorders.eyes.arizona.edu\/category\/alternate-names\/ush1b-ush1a."},{"key":"bibr6-03000605231218924","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22083910"},{"key":"bibr7-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2019.1686790"},{"key":"bibr8-03000605231218924","first-page":"1717","volume":"20","author":"Sodi A","year":"2014","journal-title":"Mol Vis"},{"key":"bibr9-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1038\/374060a0"},{"key":"bibr10-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7988-9"},{"key":"bibr11-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-15936-z"},{"key":"bibr12-03000605231218924","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v11.i25.5962"},{"key":"bibr13-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"bibr14-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"bibr15-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14768"},{"key":"bibr16-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14887"},{"key":"bibr17-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979"},{"key":"bibr18-03000605231218924","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00129"},{"key":"bibr19-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000001847"},{"key":"bibr20-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2014.11.020"},{"key":"bibr21-03000605231218924","unstructured":"Usher syndrome, https:\/\/hereditaryhearingloss.org\/usher."},{"key":"bibr22-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1177\/2515841420952194"},{"key":"bibr23-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000002054"},{"key":"bibr24-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15169"},{"key":"bibr25-03000605231218924","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1936-6"},{"key":"bibr26-03000605231218924","unstructured":"Medicine Nlo. HomoloGene:219. Gene conserved in bilateria, https:\/\/www.ncbi.nlm.nih.gov\/homologene\/219."},{"key":"bibr27-03000605231218924","first-page":"142","volume":"83","author":"Webb AA","year":"2019","journal-title":"Can J Vet Res-Rev Can Rech Vet"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605231218924","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605231218924","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605231218924","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:47:45Z","timestamp":1777459665000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605231218924"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":27,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1177\/03000605231218924"],"URL":"https:\/\/doi.org\/10.1177\/03000605231218924","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12]]},"article-number":"03000605231218924"}}