A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families

Objective: Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, CRYBB2 one the most common and water-soluble protein lens’s code for βB2-crystallin. This study aimed to investigate novel silent mutation exon six Pakistani families Autosomal Dominant Cataracts (ADCC).
 Methods: It family-based presents three five-generations two families. Data blood samples from were collected January August 2019 LRBT (Layton Rahmatullah Benevolent Trust) Hospital, Mansehra, Pakistan. We only included patients >15 years old. Before enrollment current study, each patient obtained thorough optical examination. Samples moved molecular lab using collection storage method. The phenol-chloroform technique was used extract DNA. Sanger sequencing find any potential some selected Statistical bioinformatics analysis carried out.
 Results: By tools, identified. Heterozygous 6 (c. 495G>A) detected by alignment sequences. Computational prediction program did not predict mutation.
 Conclusion: investigated important sequence variant beta-crystalline causes autosomal dominant congenital cataract (ADCC) Thus, our enlarges spectrum associated phenotypes help clinical diagnosis human diseases.
 doi: https://doi.org/10.12669/pjms.39.5.7061
 How cite this: Hussain M, Muhammad K, Khan Aziz Ud Din. A Novel Silent Variant Pak J Med Sci. 2023;39(5):---------. an Open Access article distributed under terms Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, reproduction medium, provided original work properly cited.