A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.

ABSTRACT:

Background

The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.

Methods

Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, and anterior segment optical coherence tomography (OCT) were performed. Blood samples were collected from all family members and genomic DNA was extracted. Genome sequencing was performed in all family members and Sanger sequencing was used to verify variant breakpoints.

Results

All the thirteen members in this Chinese family, including seven patients and six normal people, were recruited in this study. The ophthalmic examination of affected patients in this family was consistent wit

SUBMITTER: Qian T 

PROVIDER: S-EPMC8491394 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature