FECD3 TCF4
Disease ID
FECD3
Gene ID
TCF4
Updated
Feb 5, 2025
v2.2.1
v2.2.1
Disease
Name
Fuchs endothelial corneal dystrophy 3
Inheritance
Autosomal dominant Description
Prevalence
4.5 100
Locus
Details
Alleles
Ref. Motif
CAG
Pathogenic (ref.)
CAG
Pathogenic (gene)
CTG
gnomAD
References
Direct supporting references for info on this page.
2
E2-2 protein and Fuchs's corneal dystrophy.
Keith H,Baratz, Nirubol,Tosakulwong, Euijung,Ryu, William L,Brown, Kari,Branham, Wei,Chen, Khoa D,Tran, Katharina E,Schmid-Kubista, John R,Heckenlively, Anand,Swaroop, Goncalo,Abecasis, Kent R,Bailey, Albert O,Edwards
The New England journal of medicine · 2010-08-25
pmid:208253143
Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience.
Natalie A,Afshari, Aaron B,Pittard, Adnan,Siddiqui, Gordon K,Klintworth
Archives of ophthalmology (Chicago, Ill. : 1960) · 2006-06-01
pmid:167698294
Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.
Xunzhi,Zhang, Ashwani,Kumar, Xin,Gong, Chao,Xing, V Vinod,Mootha
Ophthalmology science · 2024-08-30
pmid:396696945
Pharmacological profile of non-hydroxylated and ether derivatives of the potent D2-selective agonist N-0437.
J M,Jansen, I,den Daas, H,Rollema, P J,Swart, P G,Tepper, J B,de Vries, A S,Horn
Naunyn-Schmiedeberg's archives of pharmacology · 1991-02-01
pmid:16768296
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
S Amer,Riazuddin, Elyse J,McGlumphy, William S,Yeo, Jiangxia,Wang, Nicholas,Katsanis, John D,Gottsch
Investigative ophthalmology & visual science · 2011-04-27
pmid:212453987
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.
Eric D,Wieben, Ross A,Aleff, Bruce W,Eckloff, Elizabeth J,Atkinson, Saurabh,Baheti, Sumit,Middha, William L,Brown, Sanjay V,Patel, Jean-Pierre A,Kocher, Keith H,Baratz
Investigative ophthalmology & visual science · 2014-08-28
pmid:251689038
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK5351489
RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.
Jintang,Du, Ross A,Aleff, Elisabetta,Soragni, Krishna,Kalari, Jinfu,Nie, Xiaojia,Tang, Jaime,Davila, Jean-Pierre,Kocher, Sanjay V,Patel, Joel M,Gottesfeld, Keith H,Baratz, Eric D,Wieben
The Journal of biological chemistry · 2015-01-15
pmid:2559332110
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman
Nature reviews. Genetics · 2024-03-11
pmid:3846778411
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
Eric D,Wieben, Ross A,Aleff, Nirubol,Tosakulwong, Malinda L,Butz, W Edward,Highsmith, Albert O,Edwards, Keith H,Baratz
PloS one · 2012-11-21
pmid:23185296Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants.
Margaux L A,Hujoel, Robert E,Handsaker, Nolan,Kamitaki, Ronen E,Mukamel, Simone,Rubinacci, Pier F,Palamara, Steven A,McCarroll, Po-Ru,Loh
bioRxiv : the preprint server for biology · 2024-11-26
pmid:39651202TCF4 trinucleotide repeat expansions and UV irradiation increase susceptibility to ferroptosis in Fuchs endothelial corneal dystrophy.
Sanjib,Saha, Jessica M,Skeie, Gregory A,Schmidt, Tim,Eggleston, Hanna,Shevalye, Christopher S,Sales, Pornpoj,Phruttiwanichakun, Apurva,Dusane, Matthew G,Field, Tommy A,Rinkoski, Michael P,Fautsch, Keith H,Baratz, Madhuparna,Roy, Albert S,Jun, Chandler,Pendleton, Aliasger K,Salem, Mark A,Greiner
Redox biology · 2024-09-10
pmid:39332053Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year.
Oliver,Dorado-Cortez, Emmanuel,Crouzet, Marie Caroline,Trone, Philippe,Gain, Zhiguo,He, Hanielle,Vaitinadapoule, Marielle,Mentek, Frédéric,Mascarelli, Sylvain,Poinard, Mari,Yasunaga, Go,Nishiuchi, Noriko,Koizumi, Naoki,Okumura, Gilles,Thuret
Cornea · 2024-07-09
pmid:39288343Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Christina,Zarouchlioti, Stephanie,Efthymiou, Stefano,Facchini, Natalia,Dominik, Nihar,Bhattacharyya, Siyin,Liu, Marcos Abreu,Costa, Anita,Szabo, Amanda N,Sadan, Albert S,Jun, Enrico,Bugiardini, Henry,Houlden, Andrea,Cortese, Pavlina,Skalicka, Lubica,Dudakova, Kirithika,Muthusamy, Michael E,Cheetham, Alison J,Hardcastle, Petra,Liskova, Stephen J,Tuft, Alice E,Davidson
EBioMedicine · 2024-09-14
pmid:39278108Increased Risk of Glaucoma in Fuchs Endothelial Corneal Dystrophy Is Independent of TCF4 Trinucleotide Repeat Expansion.
Chao,Xing, Sara,Schultis, Vladyslav,Bondar, Xin,Gong, Jess T,Whitson, V Vinod,Mootha
Cornea · 2024-09-03
pmid:39231626Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Nihar,Bhattacharyya, Niuzheng,Chai, Nathaniel J,Hafford-Tear, Amanda N,Sadan, Anita,Szabo, Christina,Zarouchlioti, Jana,Jedlickova, Szi Kay,Leung, Tianyi,Liao, Lubica,Dudakova, Pavlina,Skalicka, Mohit,Parekh, Ismail,Moghul, Aaron R,Jeffries, Michael E,Cheetham, Kirithika,Muthusamy, Alison J,Hardcastle, Nikolas,Pontikos, Petra,Liskova, Stephen J,Tuft, Alice E,Davidson
PLoS genetics · 2024-05-07
pmid:38713708Transcription factor 4 promotes increased corneal endothelial cellular migration by altering microtubules in Fuchs endothelial corneal dystrophy.
Judy,Yan, Shanti,Mehta, Keya,Patel, Narisa,Dhupar, Ness,Little, Stephan,Ong Tone
Scientific reports · 2024-05-04
pmid:38704483Comparison of Scheimpflug and Anterior Segment Optical Coherence Tomography Imaging Parameters for Japanese Patients With Fuchs Endothelial Corneal Dystrophy With and Without TCF4 Repeat Expansions.
Sayo,Maeno, Yoshinori,Oie, Ryota,Koto, Nozomi,Nishida, Arisa,Yamashita, Michika,Yoshioka, Chifune,Kai, Takeshi,Soma, Shizuka,Koh, Masahito,Yoshihara, Ryo,Kawasaki, Vishal,Jhanji, Masayuki,Nakamori, Motokazu,Tsujikawa, Kohji,Nishida
Cornea · 2024-02-01
pmid:38300219Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives.
Gozde,Sahın Vural, Hilmi,Bolat
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023-09-25
pmid:37747538