Exome-based mutation screening in South African children with primary congenital glaucoma.

Nadia CarstensSaadiah GoolamMichaella HulleyJean-Tristan BrandenburgMichele RamsaySusan Eileen Isabella Williams

Published in: Eye (London, England) (2022)

This study demonstrates the value of whole exome sequencing in identifying disease-causing variants in African children with PCG. It is the first report of a TEK disease-causing variant in an African PCG patient. Potential causative variants detected in PCG candidate genes warrant further investigation.

Keyphrases

copy number
young adults
gene expression
human health
optic nerve