Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities.

ABSTRACT:

Background

Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have been linked to a range of ophthalmic abnormalities. Furthermore, particular variants at a given site in PAX6 lead to distinct phenotypes. This study aimed to characterize genetic variants associated with congenital aniridia in a Chinese family.

Methods

The proband and family underwent ophthalmologic examinations. DNA was sampled from the peripheral blood of all 6 individuals, and whole-exome sequencing was performed. Sanger sequencing was used to verify the variant in this family members.

Results

A novel variant (c.114_11

SUBMITTER: Ouyang J 

PROVIDER: S-EPMC8761350 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature