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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Inherited retinal dystrophies (IRDs) exhibit significant genetic heterogeneity, complicating clinical diagnostics.
  • Next-generation sequencing (NGS) has advanced IRD research, yet many genetic causes remain unidentified.
  • Identifying novel disease genes is crucial for improving IRD diagnosis, prognosis, and therapeutic development.

Purpose of the Study:

  • To clinically and molecularly characterize six patients with IRDs harboring biallelic variants in the UBAP1L gene.
  • To investigate the role of UBAP1L as a potential novel gene associated with inherited retinopathy.

Main Methods:

  • Multicenter case series involving six IRD patients from four tertiary hospitals.
  • Comprehensive ophthalmic assessments and whole exome/genome sequencing.
  • Functional studies including minigene assays and a knockout mouse model.

Main Results:

  • Four distinct homozygous UBAP1L variants (2 frameshift, 1 canonical splice, 1 noncanonical splice) were identified in affected individuals.
  • Clinical presentations included maculopathy, cone dystrophy, and cone-rod dystrophy.
  • UBAP1L is highly expressed in human retinal cells; mouse models with specific UBAP1L truncations did not show retinal degeneration.

Conclusions:

  • Clinical and genetic evidence links loss of UBAP1L function to inherited retinopathy in humans.
  • These findings may enhance diagnostic capabilities and prognostic assessments for IRDs.
  • The study opens possibilities for developing targeted therapies for UBAP1L-associated retinal dystrophies.