A Novel Gap Junction Alpha 8 (GJA8) Mutation Associated with a Congenital Cataract Patient in Pakistan
A Novel Gap Junction Alpha 8 (GJA8) Mutation Associated with a Congenital Cataract Patient in Pakistan
Ayesha Zahid,Ammara Muazzam, Sidra Mustafa, Saba Irshad*,Malik Siddique Mahmood and Rehman Shahzad
ABSTRACT
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. In the present study, a novel G to C substitution (1104G>C) (pE368Q) was screened by PCR-SSCP in exon 2 of GJA8 and this tansversion altered exceedingly conserved glutamic acid to glutamine at site which was involved in coding of ASF1 like histone chaperone. Further presumption based on structural and functional analysis of mutated protein was anticipated by bioinformatics tools, which manifest mild changes in overall charge but altered post translational modifications in a way which might have a deleterious effect on ion channels anatomy and on the whole, pave ways to the genesis of cataract.
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