Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.

ABSTRACT:

Background

Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons (PTCs).

Methods

Ophthalmic examination was performed on a Chinese pedigree with congenital aniridia. The mutation was identified by targeted next-generation sequencing. Nonsense suppression therapy was applied on patient-derived lymphocytes. The PAX6 expression was assayed by real-time polymerase chain reaction and Western blot.

Results

Complete aniridia was complicated with horizontal nystagmus, contract, foveal hypoplasia, and microphthalmia. A novel heterozygous c.702_703delinsAT (p.Tyr234*) mutation was found in exo

SUBMITTER: Liu X 

PROVIDER: S-EPMC7216799 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature