A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

Identification of a missense mutation in GJA8 gene in an Iranian family with autosomal dominant congenital cataract

“…Most of the detected mutations of GJA8 belong to Chinese population some of which are as follows: p.V64G, 10 p.D47H, 11 p.F32I, 12 p.T39R and p.G46R, 13 p.I31T, 14 p.W4R, 15 and p.V44A. 16 Some other mutations have also been discovered in various ethnicities such as Australians, Pakistanis, Russians, Indians, and British [ Table 3 ].…”

The impact of GJA8 SNPs on susceptibility to age-related cataract

“…More than 20 GJA8 mutations have been detected in congenital cataract pedigrees of different populations thus far (Beyer et al 2013; Dang et al 2016; Goodenough 1992; Graw et al 2009; Jiang 2010; Li et al 2013; Liu et al 2011; Patel et al 2017; Ren et al 2017; Shiels and Hejtmancik 2013; Zhao et al 2017; Zhou et al 2011; Zhu et al 2014). However, few studies have reported the relationship of GJA8 mutations with ARC.…”

“…However, several studies found that, in some congenital families with GJA8 mutations, the gap junction channel and hemichannel functions were only mildly impaired, which was insufficient to cause congenital cataracts (Graw et al 2009 ). In addition, mutations in GJA8 could result in different lens morphologies and diverse patterns of lens opacities under different genetic models (Dang et al 2016 ; Li et al 2013 ; Patel et al 2017 ; Ren et al 2017 ; Zhao et al 2017 ; Zhou et al 2011 ). Therefore, other underlying molecular mechanisms may exist.…”

“…The Gap junction protein alpha 8 ( GJA8 ) gene, which belongs to the connexin gene family, is located at lq21.1 (CX50, MIM 600897, NG_016242.1) and consists of two exons (Dang et al 2016 ; Li et al 2013 ; Zhu et al 2014 ). This gene encodes connexin 50, which is extensively and abundantly distributed in lens fibers and epithelial cells, as well as constituting a highly developed gap junction network vital for maintaining lens transparency (Beyer et al 2013 ; Goodenough 1992 ; Jiang 2010 ).…”

“…This gene encodes connexin 50, which is extensively and abundantly distributed in lens fibers and epithelial cells, as well as constituting a highly developed gap junction network vital for maintaining lens transparency (Beyer et al 2013 ; Goodenough 1992 ; Jiang 2010 ). To date, more than 20 GJA8 variations have been identified in congenital cataract pedigrees worldwide, and most are inherited through autosomal dominance (Dang et al 2016 ; Zhu et al 2014 ). However, few studies have reported its relationship with ARC.…”