Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.

ABSTRACT:

Purpose

Aniridia is a rare congenital panocular disease caused by mutations in PAX6. The purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese patients with aniridia and to describe their clinical characteristics.

Methods

We recruited 95 patients from 65 unrelated families clinically diagnosed with aniridia. All patients underwent ophthalmic examinations. Sanger sequencing and multiplex ligation probe amplification of PAX6 were performed to detect intragenic variants and copy number variations (CNVs).

Results

We identified 58 disease-causing mutations in PAX6 in 63 families; the detection rate was 96.9%. The 58 mutations included frameshift indels (27.6%), splice site changes (25.9%), nonsense mutations

SUBMITTER: You B 

PROVIDER: S-EPMC7093334 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature