Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

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dc.contributor.authorJavadiyan, S.
dc.contributor.authorLucas, S.
dc.contributor.authorWangmo, D.
dc.contributor.authorNgy, M.
dc.contributor.authorEdussuriya, K.
dc.contributor.authorCraig, J.
dc.contributor.authorRudkin, A.
dc.contributor.authorCasson, R.
dc.contributor.authorSelva, D.
dc.contributor.authorSharma, S.
dc.contributor.authorLower, K.
dc.contributor.authorMeucke, J.
dc.contributor.authorBurdon, K.
dc.date.issued2018
dc.description.abstractBackground: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations. Methods: We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM. Rare novel protein coding variants were assessed for segregation in family members, where possible, by Sanger sequencing. Results: We identified 24 rare (frequency <1% in public databases) or novel protein coding variants in 12 probands and confirmed segregation of variants with disease in the extended family where possible. Of these, six are predicted to be the cause of disease in the patient, with four other variants also highly likely to be pathogenic. Conclusion: This study found that 20%–30% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%–70% reported in Caucasian cohorts. This suggests that additional cataract genes remain to be discovered in this cohort of Asian pediatric cataract patients.
dc.description.statementofresponsibilityShari Javadiyan, Sionne E. M. Lucas, Dechen Wangmo, Meng Ngy, Kapila Edussuriya, Jamie E. Craig, Adam Rudkin, Robert Casson, Dinesh Selva, Shiwani Sharma, Karen M. Lower, James Meucke, Kathryn P. Burdon
dc.identifier.citationMolecular Genetics & Genomic Medicine, 2018; 6(4):555-564
dc.identifier.doi10.1002/mgg3.406
dc.identifier.issn2324-9269
dc.identifier.issn2324-9269
dc.identifier.orcidRudkin, A. [0000-0003-2508-8574]
dc.identifier.orcidCasson, R. [0000-0003-2822-4076]
dc.identifier.orcidSelva, D. [0000-0002-2169-5417]
dc.identifier.urihttp://hdl.handle.net/2440/114015
dc.language.isoen
dc.publisherWiley
dc.relation.grantNHMRC
dc.rights© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
dc.source.urihttps://doi.org/10.1002/mgg3.406
dc.subjectcongenital cataract
dc.subjectinherited eye disease
dc.subjectmutation screening
dc.subjectnext-generation sequencing
dc.titleIdentification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka
dc.typeJournal article
pubs.publication-statusPublished

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