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, 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 pp. 1-10. ISSN 2324-9269 (2018) [Refereed Article]
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 Type:||Refereed Article|
|Keywords:||congenital cataract, inherited eye disease, mutation screening, next-generation sequencing|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Lucas, SEM (Ms Sionne Lucas)|
|Author:||Burdon, KP (Associate Professor Kathryn Burdon)|
|Deposited By:||Menzies Institute for Medical Research|
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