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A 6\u2010year\u2010old Caucasian girl who presented with recurrent skin rashes and sensorineural hearing loss harboured a heterozygous point mutation in <jats:italic>GJB2<\/jats:italic> (c.424T\u00a0&gt;\u00a0C; p.F142L). To characterize the impact of CX26F142L on cellular events. Plasmids CX26WT, CX26F142L, CX26G12R (KID) or CX26D66H (Vohwinkel) were transfected into HeLa cells expressing Cx26 or Cx43 or into HaCaT cells, a model keratinocyte cell line. Confocal microscopy determined protein localization. MTT assays assessed cell viability in the presence or absence of carbenoxolone, a connexin\u2010channel blocker. Co\u2010immunoprecipitation\/Western blot analysis determined Cx43:Cx26 interactions. Quantitative real\u2010time polymerase chain reaction assessed changes in gene expression of ER stress markers. Dye uptake assays determined Connexin\u2010channel functionality. F142L and G12R were restricted to perinuclear areas. Collapse of the microtubule network, rescued by co\u2010treatment with paclitaxel, occurred. ER stress was not involved. Cell viability was reduced in cells expressing F142L and G12R but not D66H. Unlike G12R that forms \u201cleaky\u201d hemichannels, F142L had restricted permeability. Cell viability of F142L and G12R transfected cells was greater in HeLa cells expressing Cx43 than in native Cx\u2010free HeLa cells. Co\u2010immunoprecipitation suggested a possible interaction between Cx43 and the three mutations. Expression of CX26F142L and G12R results in microtubule collapse, rescued by interaction with Cx43. The <jats:italic>GJB2<\/jats:italic> mutations interacted with Cx43 suggesting that unique Cx43:Cx26 channels are central to the diverse phenotype of CX26 skin\u2010related channelopathies.<\/jats:p>","DOI":"10.1111\/exd.14187","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T23:30:05Z","timestamp":1598916605000},"page":"970-979","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A heterozygous mutation in <i>GJB2<\/i> (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies"],"prefix":"10.1111","volume":"29","author":[{"given":"Ahmad","family":"Albuloushi","sequence":"first","affiliation":[{"name":"Department of Biological and Biomedical Sciences School of Health and Life Sciences Glasgow Caledonian University Glasgow 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