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

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Javadiyan, S, Craig, JE, Souzeau, E, Sharma, Shiwani, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia' , G3: Genes, Genomes, Genetics, vol. 7, no. 10 , pp. 3257-3268 , doi: 10.1534/g3.117.300109.

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Abstract

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 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 Type: Article
Authors/Creators:Javadiyan, S and Craig, JE and Souzeau, E and Sharma, Shiwani 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
Keywords: Ion torrent, mutant screen report, PGM, congenital cataract, massively parallel sequencing, pediatric cataract
Journal or Publication Title: G3: Genes, Genomes, Genetics
Publisher: Genetics Society of America
ISSN: 2160-1836
DOI / ID Number: 10.1534/g3.117.300109
Copyright Information:

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

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