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

ABSTRACT:

Objective

Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, CRYBB2 is one of the most common and a water-soluble protein of lens's that code for the βB2-crystallin. This study aimed to investigate the novel silent mutation in CRYBB2 of exon six in the Pakistani families of Autosomal Dominant Congenital Cataracts (ADCC).

Methods

It is a family-based study that presents three to five-generations of two Pakistani families. Data and blood samples from the families were collected from January to August 2019 from LRBT (Layton Rahmatullah Benevolent Trust) Hospital, Mansehra, Pakistan. We only included patients >15 years old. Before enrollment in the current study, each patient obtained a thorough

SUBMITTER: Hussain M 

PROVIDER: S-EPMC10480720 | biostudies-literature | 2023 Sep-Oct

REPOSITORIES: biostudies-literature