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


Javadiyan, S and Craig, JE and Souzeau, E and Sharma, S and Lower, KM and Mackey, DA and Staffieri, SE and Elder, JE and Taranath, D and Straga, T and Black, J and Pater, J and Casey, T and Hewitt, AW and Burdon, KP, High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia, G3: Genes, Genomes, Genetics, 7, (10) pp. 3257-3268. ISSN 2160-1836 (2017) [Refereed Article]


Copyright Statement

Copyright 2017 Javadiyan et al. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1534/g3.117.300109


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.

Item Details

Item Type:Refereed Article
Keywords:ion torrent, mutant screen report, PGM, congenital cataract, massively parallel sequencing, pediatric cataract
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:121355
Year Published:2017
Web of Science® Times Cited:16
Deposited By:Menzies Institute for Medical Research
Deposited On:2017-09-26
Last Modified:2022-08-26
Downloads:111 View Download Statistics

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