Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy. Issue 6 (November 2022)

• Record Type: Journal Article
• Authors: Peng, Yujiao; Zhao, Rulian; Dai, Erkuan; Peng, Li; He, Yunqi; Li, Shujin; Yang, Mu
• Is Part Of: European journal of ophthalmology. Volume 32:Issue 6(2022)
• Page Start: 3220
• Page End: 3226
• Publication Date: 2022-11
• Subjects: FEVR -- variants -- WES -- NDP gene -- wnt signaling; Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; 617.7005
• DOI: 10.1177/11206721221074209
• Languages: English
• ISSNs: 1120-6721

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.