Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus.
Tao ShenXuan QiuXiaoming LinJing LinXiuling LiQiwen ChenLiuqing PanZhonghao WangHuangxuan ShenQingjiong ZhangJianhua YanPublished in: Ophthalmic genetics (2021)
We recommend considering PAX6 as a candidate gene in the diagnostic screen for familial concomitant strabismus in order to avoid missed diagnosis of the mild ocular abnormalities. Careful examinations of mild ocular phenotypes are necessary for an accurate diagnosis of varied ocular abnormalities in the families with the PAX6 mutation, and proper diagnosis can facilitate genetic and clinical counseling for affected patients.
Keyphrases
- genome wide
- end stage renal disease
- copy number
- ejection fraction
- chronic kidney disease
- newly diagnosed
- peritoneal dialysis
- high resolution
- prognostic factors
- optic nerve
- intellectual disability
- gene expression
- early onset
- genome wide identification
- mass spectrometry
- patient reported outcomes
- human immunodeficiency virus
- autism spectrum disorder
- smoking cessation