Familial exudative vitreoretinopathy caused by CTNNB1 gene 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 analyzed a case of familial exudative vitreoretinopathy of Chinese Han origin using whole-exome sequencing. The results showed that the patient presents with neurodevelopmental disorders accompanied by spastic diplegia and visual impairment, as well as FEVR. Whole exome sequencing revealed a splicing mutation of c.1060 + 1G > A in the CTNNB1 gene of the patient. This may be the reason for the pathogenicity of FEVR observed in this patient. Our analysis indicates that this variant produces a truncated protein that contributes to the development of the disease. Genetic testing confirmed the FEVR diagnosis of patients from the study pedigree. Conclusions The c.1060 + 1G > A heterozygous mutation in the CTNNB1 gene can lead to FEVR disease, which expands the spectrum of CTNNB1 gene functional loss mutations in the Chinese population.