Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy.

ABSTRACT:

Purpose

To provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor-β-induced (TGFBI) gene as being associated with variant lattice corneal dystrophy (LCD).

Methods

Ophthalmologic examination of the proband was performed with slit lamp biomicroscopy. Saliva was collected as a source of DNA for screening all 17 exons of TGFBI, after which three family members were selectively screened for variants in exon 13. Rosetta-based structure prediction was used to calculate changes in TGFBI protein (TGFBIp) stability secondary to the c.1772C>T (p.Ser591Phe) missense mutation.

Results

Slit lamp examination of the 38-year-old proband revealed a clear cornea right eye and unilateral, discrete, and branching lattice li

SUBMITTER: Choo CH 

PROVIDER: S-EPMC9463079 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature