Identification of Genetic Variants Causing Paediatric Cataract in Myanmar
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 SLC7A8. Variants of uncertain significance likely to be important were identified in three children for a maximum diagnostic rate of 12/20 probands (60%) comparable to other reports. This is the first study to examine the genetics of paediatric cataract in Myanmar.
Authors
- Ye Win
- Johanna L. Jones (ORCID: https://orcid.org/0000-0002-6475-9134)
- Ashwin Mallipatna (ORCID: https://orcid.org/0000-0002-1354-2920)
- Bennet McComish
- Kathryn P. Burdon (ORCID: https://orcid.org/0000-0001-8217-1249)
- James Muecke
- Khine Nweni
- Martin Holmes (ORCID: https://orcid.org/0000-0002-3944-1116)
- D. Boardman
- Robert James Casson (ORCID: https://orcid.org/0000-0003-2822-4076)
- Lin Naing
- Andy Griffiths (ORCID: https://orcid.org/0000-0002-3738-0022)
- I. Lima (ORCID: https://orcid.org/0009-0003-2312-7258)
- Than Aung
- Soe Hlaing
- Franoli Edo
- Pakdhipat Lertsinpakdee
Institutions
- University of Tasmania (AU)
- Royal Adelaide Hospital (AU)
- North Okkalapa General Hospital (MM)
- The University of Adelaide (AU)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1111/cge.14755
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Medical Research Council
- National Health and Medical Research Council