A missense mutation in theGJB3gene responsible for erythrokeratodermia variabilis in a Chinese family

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update

“…This patient had no symptoms of hearing loss probably because this mutation in E2 domain is recessive. By systematically searching the PubMed, Embase and Web of Science, we summarized all the GJB3 mutations reported leading to EKV and phenotypes in each case ( Table 1 ) and autosomal dominant GJB3 mutation related to NSHL ( Figure 4 ; Richard et al, 1998 ; Xia et al, 1998 ; Wilgoss et al, 1999 ; Lopez-Bigas et al, 2000 ; Richard et al, 2000 ; Gottfried et al, 2002 ; Alexandrino et al, 2004 ; Terrinoni et al, 2004 ; Common et al, 2005 ; Feldmeyer et al, 2005 ; Morley et al, 2005 ; Yang et al, 2007 ; Renner et al, 2008 ; Li et al, 2010 ; Fuchs-Telem et al, 2011 ; Glatz et al, 2011 ; Scott and Kelsell, 2011 ; Wang et al, 2011 ; Liu et al, 2012 ; Torres et al, 2012 ; Wang et al, 2012 ; Ikeya et al, 2013 ; Oh et al, 2013 ; Otaguchi et al, 2014 ; Beck et al, 2015 ; Sugiura et al, 2015 ; Takeichi et al, 2016 ; Deng et al, 2018; Imura et al, 2020 ). In this case, the substitution of R98H lying in the border of M2 and CL, which are important in voltage and pH gating ( Richard et al, 2000 ), is the first mutation found involving both EKV and NSHL.…”

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function

“…The mutation identified here, p.Gly45Glu in GJB3, has been reported previously as a pathogenic variant in individuals with EKV from German and Chinese populations (4,5). It is located in the first of 2 extracellular domains of the Cx31; sites that are necessary for intercellular contact and communication (Fig.…”