Eur J Ophthalmol. 2022 Jan 17;11206721221074209. doi: 10.1177/11206721221074209. Online ahead of print.

本文采用的英格恩产品: Entranster-H4000

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


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.