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Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Katarina Stingl1, Britta Baumann2, Pietro De Angeli2

  • 1Centre for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.

International Journal of Molecular Sciences
|June 24, 2022
PubMed
Summary

A novel genetic variant in cone photoreceptor genes OPN1LW/OPN1MW causes splicing defects, leading to cone dysfunction syndromes like Blue Cone Monochromacy and severe myopia in patients.

Keywords:
Blue Cone MonochromacyBornholm Eye Diseasecone photoreceptor LWS and MWS opsin genesexonic splicing defecthaplotypeminigene assay

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Common variants in OPN1LW and OPN1MW genes are linked to splicing defects and cone dysfunction.
  • These genes encode visual pigments crucial for color vision.

Purpose of the Study:

  • Identify novel exon 3 haplotypes in OPN1LW/OPN1MW genes.
  • Investigate the functional impact of a newly identified haplotype on splicing and cone function.

Main Methods:

  • Minigene assays were used to assess splicing efficiency of different exon 3 haplotypes.
  • HEK293 and WERI-Rb1 cells were utilized to study splicing outcomes.
  • Clinical data from patients with cone dysfunction were analyzed.

Main Results:

  • A novel exon 3 haplotype (G-C-G-A-T-T-G-G) encoding L-I-V-V-A amino acids was identified in patients.
  • This haplotype induced a significant splicing defect, with only 3-5% correctly spliced transcripts.
  • Patients with the L-I-V-V-A haplotype exhibited Blue Cone Monochromacy-like phenotypes, reduced visual acuity, and severe myopia.

Conclusions:

  • The novel L-I-V-V-A haplotype in OPN1LW/OPN1MW is pathogenic, causing cone dysfunction through splicing defects.
  • This finding expands the understanding of genetic causes for dyschromatopsia and cone dysfunction syndromes.
  • The study highlights the importance of exon 3 variants in OPN1LW/OPN1MW for normal cone function.