To investigate the genetic causes of unexplained aniridia, a condition characterized by the absence of the iris, in an affected individual using advanced genomic technologies.
Approach:
Key Findings:
A complex balanced intrachromosomal rearrangement was identified affecting the PAX6 gene, representing a novel structural variant.
The translocated PAX6 gene is expected to be non-expressed due to its distance from the downstream regulatory region (DRR), which is critical for its function.
This case presents a previously unreported structural variant in the context of aniridia, emphasizing the need for advanced genomic techniques.
Interpretation:
The findings suggest that OGM and lrWGS are effective in identifying structural variants in cases of unexplained aniridia, particularly in the PAX6/ELP4 region.
Limitations:
The study is based on a single individual, which limits the generalizability of the findings and necessitates further cases for validation.
The balanced nature and small size of the rearrangement may have led to its under-detection by srWGS, indicating a potential gap in current detection methods.
Conclusion:
The study highlights the utility of advanced genomic techniques in identifying complex chromosomal rearrangements associated with genetic conditions like aniridia.
