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.

研究目的：报道3例表现为相似视网膜营养不良表型的患者中，IFT140与IFT172基因的新型变异。
研究方法：本研究为病例系列研究，纳入2名已知患有视网膜营养不良、肾病及骨骼改变的兄弟（二者IFT140基因携带相同的2种变异），以及1名IFT172基因存在意义未明新型变异且表型相似的无关个体。
研究结果：2名兄弟（分别为51岁男性与46岁男性）表现为相似的视网膜营养不良、骨骼异常及肾脏疾病，其IFT140基因存在相同的新型变异，同时携带另一种已报道的变异。另1名表型相似的无关个体，IFT172基因存在新型变异，该变异被判定为意义未明变异（Variant of Uncertain Significance，VUS）。所有受试者均接受了Blueprint Genetics（芬兰Blueprint Genetics Oy公司，地址：Keilaranta 16 A-B, 02150 埃斯波）推出的"My Retina Tracker Program Panel Plus"检测面板的基因检测。
研究结论：正如本病例系列研究所见，编码IFT复合物的IFT140与IFT172基因的新型变异，可能与相似的视网膜营养不良表型相关。