Open Access Repository

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


Downloads per month over past year

Javadiyan, S, Lucas, SEM ORCID: 0000-0003-0104-5406, Wangmo, D, Ngy, M, Edussuriya, K, Craig, JE, Rudkin, A, Casson, R, Selva, D, Sharma, Shiwani, Lower, KM, Meucke, J and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka' , Molecular Genetics & Genomic Medicine , pp. 1-10 , doi: 10.1002/mgg3.406.

126464 Journal ...pdf | Download (1MB)

| Preview
126464 - Identi...pdf | Download (1MB)

| Preview


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 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 Type: Article
Authors/Creators:Javadiyan, S and Lucas, SEM and Wangmo, D and Ngy, M and Edussuriya, K and Craig, JE and Rudkin, A and Casson, R and Selva, D and Sharma, Shiwani and Lower, KM and Meucke, J and Burdon, KP
Keywords: congenital cataract, inherited eye disease, mutation screening, next-generation sequencing
Journal or Publication Title: Molecular Genetics & Genomic Medicine
Publisher: John Wiley & Sons Ltd.
ISSN: 2324-9269
DOI / ID Number: 10.1002/mgg3.406
Copyright Information:

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

Related URLs:
Item Statistics: View statistics for this item

Actions (login required)

Item Control Page Item Control Page