University of Tasmania
Browse
121355 Journal Article.pdf (11.31 MB)

High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia

Download (11.31 MB)
journal contribution
posted on 2023-05-19, 11:25 authored by Javadiyan, S, Craig, JE, Souzeau, E, Sharma, S, Lower, KM, David MackeyDavid Mackey, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Alexander HewittAlexander Hewitt, Kathryn BurdonKathryn Burdon
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.

History

Publication title

G3: Genes, Genomes, Genetics

Volume

7

Issue

10

Pagination

3257-3268

ISSN

2160-1836

Department/School

Tasmanian School of Medicine

Publisher

Genetics Society of America

Place of publication

United States

Rights statement

Copyright 2017 Javadiyan et al. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

Usage metrics

    University Of Tasmania

    Categories

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC