Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.

ABSTRACT:

Background

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population. This study will provide a case of FEVR due to CTNNB1 splice mutation in a Chinese family, which will be helpful for genetic counseling and clinical diagnosis.

Case presentation

We collected a Chinese Han child with clinical manifestations of FEVR, accompanied by neurodevelopmental disorders. Whole exome sequencing (WES) showed the proband's CTNNB1 gene had a c.1060 + 1G > A de novo splicing mutation. Our analysis indicates that this variant produces a truncated protein that contributes to the development of the disease. Genetic testing confirmed the diagno

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11863797 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature