Create issue ticket

3 Possible Causes for Mutation in the CRYBA2 Gene

  • Congenital Cataract

    (Glu183*), and a splicing variant in CRYBA2, c.446 1G A. Identification of a novel pathogenic EPHA2 allele further implicates this gene in congenital cataract.[] This is only the second EPHA2 mutation that specifically affects the most C-terminal PSD95/Dlg/ZO1 (PDZ)-binding motif and the third pathogenic allele associated with an erroneous[]

  • Cataract - Microcornea Syndrome

    […] in the CRYBA2 gene; and CTRCT43 ( UNC45B gene mutations).[] […] to be caused by heterozygous mutation in the WFS1 gene; CTRCT42 (incomplete penetrance and variable association with myopia and glaucoma), thought to be caused by mutation[] Whole exome sequencing on trios (patient plus mother and father) may be useful in detecting a de novo mutation in an as yet unknown gene.[]

  • Congenital Cerulean Cataract Type 5

    Mutations were also found in rarely reported genes including CRYBA4, CRYBA2, BFSP1, VIM, HSF4, and EZR.[] Our study expands the mutation spectrum and frequency of genes responsible for congenital cataracts.[] […] two novel CRYGS mutations.[]

Further symptoms