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Novel homozygous splicing mutations in

Alessia Fiorentino1, Jing Yu2, Gavin Arno1,3

  • 1UCL Institute of Ophthalmology, London, UK.

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Mutations in ADP-ribosylation factor-like 2 binding protein (ARL2BP) cause autosomal recessive retinitis pigmentosa (arRP). This study identified two novel homozygous ARL2BP variants in patients with arRP, expanding the known genetic causes of this inherited retinal disease.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Autosomal recessive retinitis pigmentosa (arRP) is a group of inherited retinal diseases leading to progressive vision loss.
  • Mutations in ADP-ribosylation factor-like 2 binding protein (ARL2BP) have recently been identified as a cause of arRP.

Observation:

  • This study investigated 1,051 individuals with inherited retinal diseases using whole-genome or whole-exome sequencing.
  • Two unrelated individuals with arRP were found to have homozygous variants in ARL2BP.

Findings:

  • The identified ARL2BP variants, c.207+1G>A and c.390+5G>A, are located at splice donor sites and predicted to disrupt pre-mRNA splicing.
  • Reverse transcriptase-PCR (RT-PCR) confirmed abnormal splicing of ARL2BP in affected individuals, validating the pathogenicity of these variants.

Implications:

  • This research identifies novel genetic variants in ARL2BP associated with arRP, highlighting its role in retinal degeneration.
  • Further investigation is needed to elucidate the precise disease mechanisms and genotype-phenotype correlations in ARL2BP-associated arRP.