Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.

doi:10.1016/j.gim.2025.101562

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Article

Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2025

Abreu Costa Marcos, Sadan Amanda N, Bhattacharyya Nihar, Chai Niuzheng, Zarouchlioti Christina, Liu Siyin, Szabo Anita, Murphy Cian, Dudakova Lubica, Muthusamy Kirithika, Skalicka Pavlina, Moghul Ismail, Pontikos Nikolas, Liskova Petra, Tuft Stephen J, Davidson Alice E

Abstract excerpt

PURPOSE: To identify novel genetic causes of Fuchs endothelial corneal dystrophy (FECD) within a genetically unsolved patient cohort lacking repeat expansions in the TCF4 gene (Exp-). METHODS: A rare variant analysis framework (CoCoRV) was applied to exome data, in combination with in silico modeling, luciferase reporter, and RNA-seq analysis to characterize transcriptome-wide consequences of identified variants....

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Topics

Humans
Fuchs' Endothelial Dystrophy
MicroRNAs
Transcription Factor 4

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Female

Genetic Predisposition to Disease

Middle Aged

Exome

Mutation

Transcriptome

Source

Open in PubMed

Identifiers

PMID: 40852795
DOI: 10.1016/j.gim.2025.101562

Genes

TCF4

Provenance

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