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


Javadiyan, S and Lucas, SE and Wangmo, D and Ngy, M and Edussuriya, K and Craig, JE and Rudkin, A and Casson, R and Selva, D and Sharma, S and Lower, KM and Meucke, J and Burdon, KP, Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka, Molecular Genetics & Genomic Medicine, 6, (4) pp. 555-564. ISSN 2324-9269 (2018) [Refereed Article]


Copyright Statement

Copyright 2018 The Authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1002/mgg3.406


Background: 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.

Item Details

Item Type:Refereed Article
Keywords:congenital cataract, inherited eye disease, mutation screening, next-generation sequencing
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:Lucas, SE (Dr Sionne Lucas)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:126464
Year Published:2018
Web of Science® Times Cited:10
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-06-13
Last Modified:2022-08-25
Downloads:66 View Download Statistics

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