Article
Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.
Clinical genetics - 1 Oct 2025
Jones Johanna L, Boardman Daisy, Nweni Khine, Edo Franoli, Barros de Lima Isabelly M, Lertsinpakdee Pakdhipat, Hlaing Soe, Casson Robert, Mallipatna Ashwin, Win Ye, McComish Bennet, Lin Naing, Muecke James, Griffiths Andy, Holmes Martin, Aung Than Htun, Burdon Kathryn P
Abstract excerpt
Genetic testing for paediatric cataract detects a cause in 50%-70% of affected children but is as low as 20% in some reports. We screened 180 cataract-related genes in 22 children (from 20 families) with paediatric cataract from Myanmar using whole-exome sequencing. Pathogenic or likely pathogenic variants were identified in 45% (9/20) of probands in genes MIP, COL2A1, NHS, GJA8, GJA3, CRYGC, CRYBB2, PAX6 and...
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