Utilization of automated cilia analysis to characterize novel inpp5e variants in patients with non-syndromic retinitis pigmentosa

HIGHLIGHTS

• What: The authors report two patients with non-syndromic RP with novel variants in INPP5E of initially unknown significance: Patient 1 is a 17-year-old female with compound heterozygous variants (c.1516C > T, p.(Q506*), and c.847G > A, p.(A283T)) and Patient 2 is a 57-year-old male with a homozygous variant (c.1073C > T, p.(P358L)). In this study, two unrelated patients with a non-syndromic retinal phenotype were assessed. Both missense variants identified in this study have not been reported previously in the specific substitution of amino_acids in the case of patient . . .
  

   

  

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