Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia - Takeaways - MDSpire

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia

  • By

  • Linda M. Reis

  • Jared Tomei

  • Ryan Gallagher

  • Andrea Matter

  • Joseph Carroll

  • Ulrich Broeckel

  • Elena V. Semina

  • June 1, 2026

  • 0 min

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  • 1

    Classic aniridia is primarily caused by PAX6 haploinsufficiency, with intragenic variants or deletions affecting the ELP4 gene.

  • 2

    This study identified a complex balanced intrachromosomal rearrangement affecting the PAX6 gene in a patient with unexplained aniridia.

  • 3

    Optical genome mapping (OGM) detected a 55-kb deletion of PAX6 and an intrachromosomal insertion into 11q21, indicating a translocation.

  • 4

    Long-read whole-genome sequencing (lrWGS) determined precise breakpoints for the translocated PAX6 gene, which is now expected to be non-expressed.

  • 5

    The findings underscore the utility of OGM and lrWGS in identifying structural variants in unexplained cases of typical aniridia.

Original Source(s)

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia

  • by Linda M. Reis, Jared Tomei, Ryan Gallagher, Andrea Matter, Joseph Carroll, Ulrich Broeckel, Elena V. Semina

  • June 1, 2026

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