High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Shari Javadiyan, Jamie Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen Lower, David Mackey, Sandra Staffieri, James Elder, Deepa Taranath, Tania Straga, Joanna Black, John Pater, Theresa Casey, Alex Hewitt, Kathryn Burdon

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    21 Citations (Scopus)
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    Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected individuals with a family history (cases with previously known or published mutations were excluded) using the Ion Torrent Personal Genome Machine. Variants were prioritized for validation if they were predicted to alter the protein sequence and were absent or rare with minor allele frequency, 1% in public databases. Confirmed mutations were assessed for segregation with the phenotype in all available family members. All identified novel or previously reported cataract-causing mutations were screened in 326 unrelated Australian controls. We detected 11 novel mutations in GJA3, GJA8, CRYAA, CRYBB2, CRYGS, CRYGA, GCNT2, CRYGA, and MIP; and three previously reported cataract-causing mutations in GJA8, CRYAA, and CRYBB2. The most commonly mutated genes were those coding for gap junctions and crystallin proteins. Including previous reports of pediatric cataract-associated mutations in our Australian cohort, known genes account for .60% of familial pediatric cataract in Australia, indicating that still more causative genes remain to be identified.

    Original languageEnglish
    Pages (from-to)3257-3268
    Number of pages12
    JournalG3: Genes, Genomes, Genetics
    Issue number10
    Publication statusPublished - 1 Oct 2017

    Bibliographical note

    This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited


    • Cataract
    • Congenital
    • Ion Torrent
    • Massively parallel
    • Mutant Screen
    • Pediatric cataract
    • PGM
    • Report
    • Sequencing


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