Molecular genetics & genomic medicine
Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing
Par Huang Y, Leng X, Zhang J et 6 autres.
Contenu en anglais
Résumé
Background
Congenital cataract (CC) is an ophthalmic disorder diagnosed at birth or during early infancy, characterized by severe visual impairment and potential blindness. This study aimed to evaluate the pathogenicity of two variants: GJA8 c.201C>G (p.Asp67Glu) and CRYBB2 c.325A>T (p.Ile109Phe).
Methods
The patient's lenses were examined using slit-lamp photography and B-ultrasound. Whole-exome sequencing (WES) and sanger sequencing were performed to identify the variants. Multiple sequence alignment was conducted using CLUSTALW to assess the evolutionary conservation of the affected residues. Structural modeling and conformational analyzes of wild-type (WT) and mutant-type (MT) proteins were conducted using AlphaFold2, PyMOL, and computational structural dynamics approaches, including root mean square fluctuation (RMSF) and normal mode analysis (NMA).