Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy
Yujiao Peng 1 2 , Rulian Zhao 1 2 , Erkuan Dai 3 , Li Peng 1 2 4 , Yunqi He 1 2 4 , Shujin Li 1 2 4 , Mu Yang 1 2 4 Affiliations
- PMID: 35037517
- DOI: 10.1177/11206721221074209
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.
Keywords: FEVR; NDP gene; WES; variants; wnt signaling.