Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts

Presenting Author: Audrey O’Neill, PhD

Take home points: 

1. This is the first report of a disease-associated variant limited to exon 1B of GCNT2.
2. This case, in combination with other supportive evidence, strongly implicates isoform B (NM_001491.3 ) as a clinically relevant transcript for congenital cataracts.