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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.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • Cataract - Microcornea Syndrome

    […] in the CRYBA2 gene; and CTRCT43 ( UNC45B gene mutations).[bredagenetics.com] […] 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[bredagenetics.com] 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.[bredagenetics.com]

  • Congenital Cerulean Cataract Type 5

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

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