Background Congenital cataract is causing one‐third of blindness worldwide. Congenital cataract is heterogeneous in its inheritance patterns. The current study is aimed to explore the unknown genetic causes underlying congenital cataracts. Methods Blood samples from affected and normal individuals of n = 25 Pakistani families identified with congenital cataracts were collected. Genomic DNA was extracted and Sanger sequencing was performed to identify novel pathogenic variants in the FYCO1 (MIM#607182) gene. Later structural bioinformatics tools and molecular dynamics simulations were performed to analyze the impact of these variants on protein structure and function. Results Sanger sequencing resulted in the identification of a novel splice site mutation (NM_024513.3: c.3151‐29_3151‐7del) segregating in an autosomal recessive manner. This novel variant was confirmed to be absent in the n = 300 population controls. Further, bioinformatics tools revealed the formation of a mutant protein with a loss of the Znf domain. In addition, we also found a previously known (c.4127 T > C; p.Leu1376Pro) mutation in four families. We also report a novel heterozygous variant (c.3419G > A; p.Arg1140Gln) in another family. Conclusions In conclusion, we report a novel deletion (NM_024513.3: c.3151‐29_3151‐7del) in one family and a frequent homozygous missense mutation (c.4127 T > C; p.Leu1376Pro) in four Pakistani families. The current research highlights the importance of autophagy in lens development and maintaining its transparency.
The key intention of this review is to summarize the different studies which relate the genome-diet interactions with future perspectives of exploring an insight into the well defined functions of diverse micronutrients and other dietary components that play a vital task in defining the early developmental patterns of an organism. Human fetus development is a complex process that is totally dependent on the dietary components which interact with the genes to regulate the different proliferation and differentiation stages. We want to explore those complex interactions that lay hidden between micro-nutrients and gene expressions but are means of the apparent changes of a phenotype of an individual. Along with this the review will also perceive some basics of development of certain diseases as well, due to these complex genome-diet interactions thus leading to refine the dietary outlines for maternal and prenatal develop- mental stages in future. Research has also shown that genome-diet interactions are very complex as without proper nutrients the end result is the genome instability which may lead to chronic diseases, developmental defects and certain types of cancer.
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