Small Copy Number Neutral Intrachromosomal Translocation of and Aniridia

What is the genetic basis of classic aniridia in an individual with negative clinical test results along with short-read whole-genome sequencing (srWGS)?This diagnostic study combining optical genome mapping (OGM) and long-read whole-genome sequencing (lrWGS) revealed a novel small balanced intrachromosomal translocation that included all exons but separated the gene from its downstream regulatory region critical for expression.These results suggest OGM and lrWGS can overcome the diagnostic limitations of srWGS in detecting small balanced translocations, potentially providing a strategy for solving unexplained aniridia, with a specific focus on the region.

Corresponding Authors: Elena V. Semina, PhD (esemina@mcw.edu), and Ulrich Broeckel, MD (ubroeckel@mcw.edu), Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226.

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