Yujiao Peng1,2, Rulian Zhao1,2, Erkuan Dai3, Li Peng1,2,4, Yunqi He1,2,4, Shujin Li1,2,4, Mu Yang1,2,4. 1. Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, 12599University of Electronic Science and Technology of China, Chengdu, Sichuan, China. 2. Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & 89669Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. 3. Ophthalmology, 91603Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China. 4. Chinese Academy of Sciences Sichuan Translational Medicine Hospital, Chengdu, Sichuan, China.
Abstract
PURPOSE: To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR). METHODS: Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive age-appropriate eye examination and genetic analysis. Luciferase assay was performed to evaluate impacts of variants on Norrin/β-catenin signaling activity. RESULTS: Here we report two novel NDP variants associated with FEVR in three families, including c.17T>C (p.Leu6Pro) in family 1 and c.58G>A (p.Gly20Arg) in family 2 and 3. These two variants were co-segregated with the disease phenotypes within each family. In addition, both variants resulted in compromised Norrin/β-catenin signaling activity. CONCLUSION: Our study identified two FEVR-associated pathogenic variants in NDP, which expanded the variant spectrum and provided information for the genetic diagnosis of FEVR.
PURPOSE: To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR). METHODS: Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive age-appropriate eye examination and genetic analysis. Luciferase assay was performed to evaluate impacts of variants on Norrin/β-catenin signaling activity. RESULTS: Here we report two novel NDP variants associated with FEVR in three families, including c.17T>C (p.Leu6Pro) in family 1 and c.58G>A (p.Gly20Arg) in family 2 and 3. These two variants were co-segregated with the disease phenotypes within each family. In addition, both variants resulted in compromised Norrin/β-catenin signaling activity. CONCLUSION: Our study identified two FEVR-associated pathogenic variants in NDP, which expanded the variant spectrum and provided information for the genetic diagnosis of FEVR.