Supplementary Material for: Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes

Purpose: To report novel variants in IFT140 and IFT172 genes in three patients with similar retinal dystrophy phenotypes. Methods: This is a case series of two brothers with known retinal dystrophy, renal disease, and skeletal changes who shared the same two variants in the IFT140 gene, and an unrelated individual with a novel variant of uncertain significance in the IFT172 gene and a similar phenotype. Results: Two siblings (a 51-year-old male and 46-year-old male) who presented with a similar retinal dystrophy, skeletal abnormalities, and kidney disease were found to have the same novel variant in the IFT140 gene, along with another, previously reported variant. An unrelated individual with a similar retinal phenotype was found to have a novel variant in the IFT172 gene, although this was noted as a variant of uncertain significance (VUS). The patients underwent testing with the Blueprint Genetics (Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland) “My Retina Tracker Program Panel Plus” panel. Conclusion: Novel variants in the IFT140 and IFT172 genes encoding the IFT complex may contribute to similar retinal dystrophy phenotypes, as noted in our case series.