Whole exome sequencing of Congenital Cataract

Whole exome sequencing to identify potentially relevant mutations of congenital cataract in a Chinese girl. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008267	Whole exome sequencing of a Chinese girl with congenital cataract. The dataset contains one sample with two fastq files. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.	Illumina HiSeq 2000	1

Publications	Citations
Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family. Sheng D, Yang D, Xie W, Li M, Zhong L, Zhao S, Liang H. Cureus 15: 2023 e34208	0