{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:33:28Z","timestamp":1784867608847,"version":"3.55.0"},"reference-count":217,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T00:00:00Z","timestamp":1649721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071508"],"award-info":[{"award-number":["82071508"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot\u2013Marie\u2013Tooth disease (CMT1X). A large number of knockout and knock-in animal models have been used to study the pathology and pathogenesis of diseases of different organs. Because the structures of different connexins are highly homologous and the functions of gap junctions formed by these connexins are similar, connexin-related hereditary diseases may share the same pathogenic mechanism. Here, we analyze the similarities and differences of the pathology and pathogenesis in animal models and find that connexin mutations in gap junction genes expressed in the ear, eye, heart, skin, and peripheral nerves can affect cellular proliferation and differentiation of corresponding organs. Additionally, some dominant mutations (e.g., Cx43 p.Gly60Ser, Cx32 p.Arg75Trp, Cx32 p.Asn175Asp, and Cx32 p.Arg142Trp) are identified as gain-of-function variants in vivo, which may play a vital role in the onset of dominant inherited diseases. Specifically, patients with these dominant mutations receive no benefits from gene therapy. Finally, the complete loss of gap junctional function or altered channel function including permeability (ions, adenosine triphosphate (ATP), Inositol 1,4,5-trisphosphate (IP3), Ca2+, glucose, miRNA) and electric activity are also identified in vivo or in vitro.<\/jats:p>","DOI":"10.3390\/ijms23084255","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T21:15:35Z","timestamp":1649798135000},"page":"4255","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Connexin Mutations and Hereditary Diseases"],"prefix":"10.3390","volume":"23","author":[{"given":"Yue","family":"Qiu","sequence":"first","affiliation":[{"name":"Institute of Otorhinolaryngology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianglin","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Huazhong University of Science and Technology, Wuhan 430022, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9579-8080","authenticated-orcid":false,"given":"Sen","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Otorhinolaryngology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1771-3715","authenticated-orcid":false,"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Institute of Otorhinolaryngology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1016\/j.celrep.2019.03.079","article-title":"Development of a Cx46 Targeting Strategy for Cancer Stem Cells","volume":"27","author":"Silver","year":"2019","journal-title":"Cell Rep."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0092-8674(00)81282-9","article-title":"The gap junction communication channel","volume":"84","author":"Kumar","year":"1996","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.bbamem.2017.05.016","article-title":"Gap junction gene and protein families: Connexins, innexins, and pannexins","volume":"1860","author":"Beyer","year":"2018","journal-title":"Biochim. 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