Send to

Choose Destination
Hum Mutat. 2019 Mar 4. doi: 10.1002/humu.23737. [Epub ahead of print]

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Author information

Institute for Research in Ophthalmology, Sion, Switzerland.
Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
Department of Genetics, Hospital "Dr. Luis Sanchez Bulnes", Asociación Para Evitar la Ceguera en México, Mexico City, Mexico.
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.
Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.


Human Transforming Growth Factor β-induced (TGFBI), 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 heterozygous or homozygous state in various corneal dystrophies, including a novel variant reported here. All disease-associated variants were inherited as autosomal dominant traits but one; this latter was inherited as an autosomal recessive trait (Afshari et al., 2008). Most corneal dystrophy-associated variants are located at amino acids Arg124 and Arg555. In order to keep the list of corneal dystrophy-associated variant current, we generated a locus-specific database for TGFBI ( containing all pathogenic and likely pathogenic variants reported so far. Non disease associated variants are described in specific databases, like gnomAD and ExAC and are not listed here. This article presents the most recent up-to-date list of disease-associated variants. This article is protected by copyright. All rights reserved.


BIGH3; Inherited corneal dystrophy; TGFBI; variants spectrum


Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center