Human transforming growth factor β‐induced (TGFBI also known as BIGH3), is a gene

responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which
is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration
in cell surface interactions could be the underlying cause for the progressive accumulation
of extracellular deposits in different layers of the cornea with the resulting changes of
refractive index and transparency. To this date, 69 different pathogenic or likely pathogenic
variants in TGFBI have been identified in a heterozygous or homozygous state in various
corneal dystrophies, including a recently variant reported that shows a missense
transversion A→C at nucleotide 1877 in exon 14 (c.1877A>C), resulting in a substitution of
histidine by proline (CAT→CGT, p.H626P.

Valeria Kheir, Vianney Cortés‐González, Juan C. Zenteno, Daniel F. Schorderet, “Mutation

update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies”, DOI:

https://doi.org/10.1002/humu.23737

Catherine E. Wheeldon, Betina H. de Karolyi, Dipika V. Patel, Trevor Sherwin, Charles N.J.
McGhee, Andrea L. Vincent, “A novel phenotype-genotype relationship with a TGFBI exon
14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer” Molecular
Vision 2008; 14:1503-1512