{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T11:17:31Z","timestamp":1792495051562,"version":"4.5.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:00:00Z","timestamp":1726012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101963"],"award-info":[{"award-number":["82101963"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non\u2010syndromic deafness\u201041 (DFNA41), has been proven to be essential for life\u2010long normal hearing and for the protection of noise\u2010induced hearing loss (NIHL). Our present study reports a missense variant in the <jats:italic>P2RX2<\/jats:italic> gene (c.178G\u2009&gt;\u2009T (p.V60L)), for the second time worldwide, in a five\u2010generation kindred living in Henan, China. Despite carrying the same variant, the affected members in this family appear to present with earlier\u2010onset hearing loss and poorer hearing compared to the original DFNA41 families. In addition, this study supplements some content that was not covered in previous reports. We quantitatively evaluated the pain perception ability of some members using the Pain Vision PS\u20102100 system, and further found an interesting clinical manifestation, that is, hyperalgesia, in heterozygotes for <jats:italic>P2RX2<\/jats:italic> p.V60L. The cochlear implant (CI) was also provided for the proband of profound deafness, resulting in satisfactory clinical outcomes. Finally, we carried out a systematic review of recently published articles on the <jats:italic>P2RX2<\/jats:italic> gene, which is beneficial for better understanding the role of the <jats:italic>P2RX2<\/jats:italic> gene in the auditory system and the pathogenic mechanisms in sensorineural hearing loss (SNHL).<\/jats:p>","DOI":"10.1002\/ajmg.a.63877","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T08:55:16Z","timestamp":1726044916000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the <scp><i>P2RX2<\/i><\/scp> Gene"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0738-8648","authenticated-orcid":false,"given":"Qiang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuping","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Zuo","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengyu","family":"Lian","sequence":"additional","affiliation":[{"name":"Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxue","family":"Tang","sequence":"additional","affiliation":[{"name":"Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University  Zhengzhou China"},{"name":"The Research and Application Center of Precision Medicine, the Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7895-0899","authenticated-orcid":false,"given":"Hongen","family":"Xu","sequence":"additional","affiliation":[{"name":"Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University  Zhengzhou China"},{"name":"The Research and Application Center of Precision Medicine, the Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,11]]},"reference":[{"issue":"5","key":"e_1_2_10_2_1","first-page":"368","article-title":"Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss","volume":"25","author":"Azizi Malamiri R.","year":"2021","journal-title":"Iranian Biomedical Journal"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2010782117"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-018-0375-5"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2016.0051"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab077"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.088435"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi300090x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.052"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010467"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1744-8069-5-22"},{"key":"e_1_2_10_12_1","unstructured":"Hereditary Hearing Loss. n.d.\u201cHereditary Hearing Loss Homepage.\u201dAccessed August 9 2024.http:\/\/hereditaryhearingloss.org\/."},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4384-14.2015"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00464-014-3594-7"},{"issue":"16","key":"e_1_2_10_15_1","article-title":"N\u2010Methyl\u2010D\u2010Aspartate Receptors Involvement in the Gentamicin\u2010Induced Hearing Loss and Pathological Changes of Ribbon Synapse in the Mouse Cochlear Inner Hair Cells","volume":"2018","author":"Hong J.","year":"2018","journal-title":"Neural Plasticity"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2009.01.001"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-19-08377.1999"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222295110"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-021-03516-6"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1517\/14728222.7.4.513"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(99)77009-8"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1723"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-015-0510-3"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-014-8951-y"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.28318"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2016.00186"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415575045"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00615"},{"key":"e_1_2_10_29_1","unstructured":"WHO. n.d.\u201cOverview of Deafness and Hearing loss.\u201dAccessed August 9 2024.https:\/\/www.who.int\/news\u2010room\/fact\u2010sheets\/detail\/deafness\u2010and\u2010hearing\u2010loss."},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1445"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/jpp\/rgaa029"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1851"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.23-07-02517.2003"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11302-010-9195-6"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-003-4003-4"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1159\/000058307"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-15-j0007.2000"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-200305060-00008"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222285110"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2018.38.4.291"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-014-0462-z"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.2147\/DDDT.S253031"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63877","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T06:02:30Z","timestamp":1734069750000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,11]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/ajmg.a.63877"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63877","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,11]]},"assertion":[{"value":"2023-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63877"}}