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Article

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

Ophthalmic genetics - 1 Aug 2022

Choo Charlene H, Chung Doug D, Ledwitch Kaitlyn V, Kassels Alexa, Meiler Jens, Aldave Anthony J

Abstract excerpt

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...

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Share to Amyloid Neuropathies, Familial
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Extracellular Matrix Proteins

Share to Mutation, Missense

Share to Pedigree

Share to Transforming Growth Factor beta

Share to Transforming Growth Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 35315300
DOI: 10.1080/13816810.2022.2050766
PMCID: PMC9463079

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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