5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.

ABSTRACT:

Background

 Familial exudative vitreoretinopathy (FEVR) represents a clinically and genetically diverse ophthalmic disorder marked by incomplete development of retinal blood vessels. The NDP gene predominantly underlies X-linked FEVR.

Methods

Copy number variation sequencing, chromosomal microarray, whole exome sequencing and Sanger sequencing were performed to identify and validate the candidate variant. The functional effect of the candidate variant was further investigated in HEK293 and HeLa cells with pcMINI and pcMINI-N vectors by means of minigene splicing assay in vitro. A summary of known pathogenic variants in the 5'-untranslated regions (5' UTR) of the NDP gene and their clinical characteristics was formulated.

Results

 Whole exome sequencing identified a no

SUBMITTER: Liu S 

PROVIDER: S-EPMC12577050 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature