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Should patients with kearns-sayre syndrome and corneal endothelial failure be genotyped for a TCF4 trinucleotide repeat, commonly associated with fuchs endothelial corneal dystrophy?

Dudakova, L; Skalicka, P; Davidson, AE; Sadan, AN; Chylova, M; Jahnova, H; Anteneova, N; ... Liskova, P; + view all (2021) Should patients with kearns-sayre syndrome and corneal endothelial failure be genotyped for a TCF4 trinucleotide repeat, commonly associated with fuchs endothelial corneal dystrophy? Genes , 12 (12) , Article 1918. 10.3390/genes12121918. Green open access

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Davidson_Should patients with kearns-sayre syndrome and corneal endothelial failure be genotyped for a TCF4 trinucleotide repeat, commonly associated with fuchs endothelial corneal dystrophy?_VoR.pdf - Published Version

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Abstract

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. In addition, a repeat expansion situated within an intron of TCF4 (termed CTG18.1) was genotyped using the short tandem repeat assay. The diagnosis of KSS spectrum was based on the presence of ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy, hearing loss, and muscle weakness, which were further supported by the detection of ~6.5 kb mtDNA deletion. At the age of 33 years, the proband’s best corrected visual acuity was reduced to 0.04 in the right eye and 0.2 in the left eye. Rare ocular findings included marked corneal oedema with central corneal thickness of 824 and 844 µm in the right and left eye, respectively. No pathogenic variants in the genes, which are associated with corneal endothelial dystrophies, were identified. Furthermore, the CTG18.1 genotype was 12/33, which exceeds a previously determined critical threshold for toxic RNA foci appearance in corneal endothelial cells.

Type: Article
Title: Should patients with kearns-sayre syndrome and corneal endothelial failure be genotyped for a TCF4 trinucleotide repeat, commonly associated with fuchs endothelial corneal dystrophy?
Open access status: An open access version is available from UCL Discovery
DOI: 10.3390/genes12121918
Publisher version: https://doi.org/10.3390/genes12121918
Language: English
Additional information: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Kearns-Sayre syndrome; corneal endothelium; CTG18.1; TCF4; corneal dystrophy; endothelial failure; exome sequencing
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10140372
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