Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.

ABSTRACT:

Purpose

The purpose of this study was to investigate trinucleotide repeat (TNR) expansion and somatic repeat instability in the TCF4 gene using small pool polymerase chain reaction (SP-PCR) in patients with Fuchs' endothelial corneal dystrophy (FECD).

Methods

We selected 15 patients with FECD who had an abnormal CTG extension allele of 50 or more in the TCF4 gene via a short tandem repeat (STR) assay and triplet repeat primed PCR (TP-PCR). Expanded repeat number and variations in the number of repeat expansion within the leukocyte DNA of these 15 patients were examined via SP-PCR. DNA was collected from the corneal endothelium of a patient who underwent keratoplasty. Subsequently, SP-PCR was performed to compare the expanded alleles in the corneal endothelium and leukocytes.

SUBMITTER: Maeno S 

PROVIDER: S-EPMC12347246 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature