{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:56:19Z","timestamp":1790394979777,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2020YFC2005200"],"award-info":[{"award-number":["2020YFC2005200"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81730028"],"award-info":[{"award-number":["81730028"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81800899"],"award-info":[{"award-number":["81800899"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center","doi-asserted-by":"publisher","award":["SHDC2020CR1044B"],"award-info":[{"award-number":["SHDC2020CR1044B"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Laryngoscope Investig Oto"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two unrelated Chinese families were recruited. Genetic etiology was identified by targeted next\u2010generation sequencing (NGS) and verified by Sanger sequencing. Hearing evaluations included pure tone audiometry, auditory brainstem response to clicks, and otoscopic examination. Medical history and computerized tomography scan of temporal bone were also collected. In addition, linear regression was used to summarize all of the reported cases and estimate the progression of hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 28\u2010year\u2010old man with variant c.68delC had progressive, moderately severe hearing loss and a suspicious history of renal impairment. His hearing result was 63.75\u2009dB HL. The other proband was the youngest patient with MPZL2\u2010related hearing loss reported so far in the literature (genotype: c.220C&gt;T homozygote). Her hearing result by click\u2010ABR was 25\u2009dB nHL at 3\u00a0months of age, and deteriorated to 40\u2009dB nHL at 15\u2009months. Behavioral audiometry identified a hearing loss of 26.25\u2009dB HL. In summarizing all of the reported cases, using linear regression, MPZL2\u2010related hearing loss may deteriorate by 0.59\u2009dB HL per year, and different MPZL2 variants may lead to different rates of progression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, we first identified two unrelated patients with <jats:italic>MPZL2<\/jats:italic>\u2010related hearing loss in Chinese population, and a novel variant c.68delC. Our results expanded the mutation spectrum of deafness genes. Further studies are required to clarify the genotype\u2013phenotype correlation and the progression of <jats:italic>MPZL2<\/jats:italic>\u2010related hearing loss.<\/jats:p><\/jats:sec>","DOI":"10.1002\/lio2.829","type":"journal-article","created":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T07:28:51Z","timestamp":1653636531000},"page":"870-876","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel <scp><i>MPZL2<\/i><\/scp> c.<scp>68delC<\/scp> variant is associated with progressive hearing loss in Chinese population and literature review"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2508-7870","authenticated-orcid":false,"given":"Zhili","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Ear Institute Shanghai Jiao Tong University School of Medicine; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300)  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6046-7735","authenticated-orcid":false,"given":"Mengda","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Radiology, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5317-902X","authenticated-orcid":false,"given":"Hao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Ear Institute Shanghai Jiao Tong University School of Medicine; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300)  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Ear Institute Shanghai Jiao Tong University School of Medicine; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300)  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3708-6413","authenticated-orcid":false,"given":"Ying","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Ear Institute Shanghai Jiao Tong University School of Medicine; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300)  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)71047-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AUD.0000000000000610"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/EDE.0b013e318245996e"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2004.11.007"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(00)00307-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.4.1061"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.02.131"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1901-4"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.05.011"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0774-9"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2020.110481"},{"key":"e_1_2_8_13_1","first-page":"2021","volume":"1","author":"World Health Organization","year":"2021","journal-title":"Accessed in July"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0535-9"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.66"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.007"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000066796.11916.94"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01407.x"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(88)90591-8"},{"issue":"7","key":"e_1_2_8_21_1","first-page":"703","article-title":"Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production","volume":"17","author":"Sperling O","year":"1972","journal-title":"Rev Eur Etud Clin Biol"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-15-0884"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2010.161"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2016.03.009"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2019.04.012"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2488-05.2006"}],"container-title":["Laryngoscope Investigative Otolaryngology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lio2.829","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/lio2.829","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lio2.829","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T00:06:30Z","timestamp":1692835590000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lio2.829"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,27]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/lio2.829"],"URL":"https:\/\/doi.org\/10.1002\/lio2.829","archive":["Portico"],"relation":{},"ISSN":["2378-8038","2378-8038"],"issn-type":[{"value":"2378-8038","type":"print"},{"value":"2378-8038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,27]]},"assertion":[{"value":"2022-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}