{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:56:59Z","timestamp":1779256619469,"version":"3.51.4"},"reference-count":37,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,10,8]],"date-time":"2019-10-08T00:00:00Z","timestamp":1570492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC005575"],"award-info":[{"award-number":["R01DC005575"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC017264"],"award-info":[{"award-number":["R01DC017264"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["T32DC015995"],"award-info":[{"award-number":["T32DC015995"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC01211"],"award-info":[{"award-number":["R01DC01211"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771023"],"award-info":[{"award-number":["81771023"]}],"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":["81470705"],"award-info":[{"award-number":["81470705"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:sec><jats:title>Objectives\/Hypothesis<\/jats:title><jats:p><jats:italic>P2RX2<\/jats:italic> encoding P2X purinoreceptor 2 has been identified as the gene responsible for autosomal dominant deafness\u201041 (DFNA41) as well as mediating vulnerability to noise\u2010induced hearing loss (NIHL). The objective of this study was to investigate the audiological and molecular characteristics of P2RX2\u2010related deafness, with emphasis on its role in NIHL by determining the audiological characteristics of a previously reported six\u2010generation DFNA41 family with a 10\u2010year follow\u2010up. We have also summarized phenotype\u2013genotype correlations of P2RX2\u2010related deafness in human and mouse models.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>We describe clinical longitudinal follow\u2010up in the DFNA41 family with P2RX2 (p.Val60Leu) mutation and perform a systematic literature search in PubMed and poster presentations on meeting\/conference websites to identify current insights into P2RX2\u2010mediated NIHL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and physical examinations of the family members were performed, and audiograms were obtained to assess the hearing thresholds. Clinical follow\u2010up features in this DFNA41 family are presented along with correlation analyses of phenotype\u2013genotype in all reported families with P2RX2\u2010related deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Progressive hearing impairment was confirmed by history and by audiological follow\u2010up testing in all the patients. The onset of hearing loss was between age 25 and 35\u2009years. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender differences.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study and the review of the literature suggest that P2RX2 plays a crucial role in predisposition to noise\u2010induced and age\u2010related hearing loss. A better knowledge about the <jats:italic>P2RX2<\/jats:italic>\u2010associated genetic variants can help in developing novel therapeutic strategies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Level of Evidence<\/jats:title><jats:p>2b <jats:italic>Laryngoscope<\/jats:italic>, 130:1657\u20131663, 2020<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.28318","type":"journal-article","created":{"date-parts":[[2019,10,8]],"date-time":"2019-10-08T15:12:07Z","timestamp":1570547527000},"page":"1657-1663","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Progressive Dominant Hearing Loss (Autosomal Dominant Deafness\u201041) and <i>P2RX2<\/i> Gene Mutations: A Phenotype\u2013Genotype Study"],"prefix":"10.1002","volume":"130","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4758-6470","authenticated-orcid":false,"given":"Xue Zhong","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Mittal","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan E.","family":"Ballard","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoto.2017.1243"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26150"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoto.2016.2661"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620101.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.567"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222285110"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.25274"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-200210280-00030"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2016.00186"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-19-08377.1999"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000046865"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222295110"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.052"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415575045"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2009.01.001"},{"key":"e_1_2_7_17_1","unstructured":"GratiM MaQ MittalR Kannan\u2010SundhariA YanD LiuXZ. 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