Cataracts are principal cause of visual impairments among people, although ocular surgery can reestablish vision in such patients but genetic researches have validated that, mutations in GJA8 are coherent source of lens opaqueness and inappropriate growth of fiber cells.
Congenital cataracts, GJA8, Mutation screening, PCR-SSCP.
GJA8. GJA3, CRYGD, DMPK, MIP, BFSP2, PITX3, CTDP1, SIL1, RAB3GAP1, RAB3GAP2, RAB 18, GJA1, RECQL4, DHCR7,CRYBB3, NDP and NHS, located at divergent chromosomes (Xu and Traboulsi, 2014; Chen et al., 2015).
Substitution of glutamic acid to glutamine at position 368 in GJA8 exon 2 is a novel mutation as it is not previously reported.
Exome sequencing in developmental eye disease leads to identification of causal variants in
GJA8, CRYGC, PAX6 and CYP1B1.
Results: A novel 15 bp deletion on GJA8 (c.426_440delGCTGGAGGGGACCCT or p.
We identified a novel c.426_440delGCTGGAGGGGACCCT in GJA8 that segregates with the disease phenotype in the family and evaluated potential pathogenicity of the deletion and modeled the functional impacts of the deletion on the structure of the connexin 50 (Cx50) protein.
Forty-five genes implicated in the CC, including 29 nonsyndromic cataract genes ( AGK , BEST1 , BFSP1 , BFSP2 , CHMP4B , CRYAA , CRYAB , CRYBA1 , CRYBA4 , CRYBB1 , CRYBB2 , CRYBB3 , CRYGC , CRYGD , CRYGS , EPHA2 , FYCO1 , GJA3 , GJA8 , HSF4 , P3H2 , LIM2 , MAF , MIP , NHS , PITX3 , SLC16A12 , TDRD7 , and VIM ) and 16 syndromic cataract genes ( ABHD12 , CNBP , CTDP1 , EYA1 , FTL , GALK1 , GCNT2 , GFER , GJA1 , JAM3 , OPA3 , PAX6 , RAB3GAP2 , SIL1 , SIX6 , and SLC33A1 ), were collected from careful literature and database search.
(63) Saydamligi ve dolayisiyla islevi hucrelerinin hidrasyonu ve hacmiyle dogrudan ilgili olan lenste nutrisyon, hidrasyon ve atik urunlerin uzaklastirilmasi gibi gorevleri olan major intrinsik protein, konneksinler ve lens intrinsik membran protein 2'yi kodlayan genletdeki (MIP, GJA3,
GJA8, LIM2) mutasyonlar da bu islevleri bozarak kataraktogenezde rol alirlar (63) Lensin embriyolojik gelisiminde gorev yapan bircok ttansktipsiyon faktorunu kodlayan genlerdeki (PITX3, PAX6, FOXE3, EYA1, MAF, HSF4) mutasyonlar da katataktla iliskilendirilmistir.