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Article

Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.

Molecular vision - 1 Jan 2025

Alayed Bushra, Albuainain Danah, Siddiqui Salina, Li Weijia, Hany Ummey, Anand Seema, Inglehearn Chris F, Watson Christopher M, Ali Manir

Abstract excerpt

Purpose: A trinucleotide repeat expansion in TCF4 is thought to cause Fuchs endothelial corneal dystrophy (FECD) in ~70% of European patients. In addition, strong evidence exists for the involvement of rare variants in COL8A2 and SLC4A11 in a small number of FECD cases, and more controversially, it has been suggested that variants in ZEB1, AGBL1, and LOXHD1 may also be involved. We screened patients without a...

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Source

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Identifiers

PMID: 42180433
PMCID: PMC13193275

Genes

LOXHD1
AGBL1
COL8A2
SLC4A11
TCF4
ZEB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.PMID 42180433Read ↗

Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.Semantic proximity Read ↗

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy.Semantic proximity Read ↗

Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal DystrophySemantic proximity Read ↗

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseSemantic proximity Read ↗

TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.Semantic proximity Read ↗

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseSemantic proximity Read ↗

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.Semantic proximity Read ↗

CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs' dystrophy.Semantic proximity Read ↗

Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.Semantic proximity Read ↗

Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant.Semantic proximity Read ↗

Tissue-Specific Dynamics of <i>TCF4</i> Triplet Repeat Instability Revealed by Optical Genome MappingSemantic proximity Read ↗

Effect of Trinucleotide Repeat Expansion on the Expression ofTCF4mRNA in Fuchs' Endothelial Corneal DystrophySemantic proximity Read ↗

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