A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.

ABSTRACT:

Background

To identify the disease-causing gene in a Chinese family affected with congenital aniridia.

Methods

Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography, and fundus fluorescein angiography. The proband was screened for pathogenic variants by whole exome sequencing (WES) and copy number variant (CNV) analysis. Real-time quantitative PCR (RT-qPCR) was applied to confirm the CNV results. Breakpoints were identified by long-range PCR followed by Sanger sequencing.

Results

All seven members of this Chinese family, including four patients and three normal individuals, were recruited for this study. All patients showed bilateral congenital aniridia with nystagmus, except the so

SUBMITTER: Li Y 

PROVIDER: S-EPMC10523764 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature