Expansion of trinucleotide CTG repeats in the TCF4 gene as a marker of fuchs’ endothelial corneal dystrophy

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Abstract

Fuchs’ endothelial corneal dystrophy (FECD) is an inherited severe and progressive disease, characte­rized by endothelial cell density decrease and increasing corneal edema. FECD development may be linked to expanded trinucleotide repeat, CTG, in the third intron of the TCF4 gene. The study focuses on estimating the prevalence of expanded CTG repeat in TCF4 gene in the Russian population, in patients with normal cornea and in patients with FECD (by applying triplet repeat PCR technique and capillary electrophoresis). 51 patients with FECD and 38 patients with normal cornea were examined. The estimation of the number of CTG triplet repeats in TCF4 gene determination is the veracious laboratory marker of FECD.

About the authors

Sanasar S. Papanyan

Pavlov First Saint Petersburg State Medical University

Author for correspondence.
Email: Dr.papanyan@yandex.ru
ORCID iD: 0000-0003-3766-2211
SPIN-code: 9794-4692

MD, Aspirant, Ophthalmology Department

Russian Federation, Saint Petersburg

Sergey Yu. Astakhov

Pavlov First Saint Petersburg State Medical University

Email: astakhov73@mail.ru
SPIN-code: 7732-1150

MD, PhD, DMedSc, Professor, Head of the Department

Russian Federation, Saint Petersburg

Vladimir D. Nazarov

Pavlov First Saint Petersburg State Medical University

Email: nazarov19932@mail.ru
ORCID iD: 0000-0002-9354-8790

Research Fellow, Laboratory of Autoimmune Diagnostics, Center for Molecular Medicine

Russian Federation, Saint Petersburg

Sergey V. Lapin

Pavlov First Saint Petersburg State Medical University

Email: svlapin@mail.ru
ORCID iD: 0000-0002-4998-3699

MD, PhD, Head, Laboratory of Autoimmune Diagnostics, Center for Molecular Medicine

Russian Federation, Saint Petersburg

Sergey A. Novikov

Pavlov First Saint Petersburg State Medical University

Email: serg2705@yandex.ru

MD, PhD, DMedSc, Professor, Ophthalmology Department

Russian Federation, Saint Petersburg

Inna A. Riks

Pavlov First Saint Petersburg State Medical University

Email: riks0503@yandex.ru

MD, PhD, Assistant. Ophthalmo­logy department

Russian Federation, Saint Petersburg

Liliya K. Anikina

Pavlov First Saint Petersburg State Medical University

Email: lily-sai@yandex.ru

Student of 6th year

Russian Federation, Saint Petersburg

Kseniya S. Dovydenko

Pavlov First Saint Petersburg State Medical University

Email: ksenisens@gmail.com
ORCID iD: 0000-0002-8190-7223

Student of 6th year

Russian Federation, Saint Petersburg

References

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Supplementary files

Supplementary Files
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2. Fig. 1. Electrophoregram of the screening study of the number of CTG repeats in the TCF4 gene. Patients have no expansion of CTG repeats in the TCF4 gene

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3. Fig. 2. Electrophoregram screening study of the number of CTG repeats in the TCF4 gene. Expansion required

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4. Рис. 3. PCR electrophoregram with triple repeat priming in a patient with an expansion of CTG repeats in the TCF4 gene

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5. Fig. 4. The prevalence of expansion of CTG repeats in the TCF4 gene in the group of patients with FECD

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6. Fig. 5. The number of repetitions in the group of patients FECD and the comparison group

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Copyright (c) 2019 Papanyan S.S., Astakhov S.Y., Nazarov V.D., Lapin S.V., Novikov S.A., Riks I.A., Anikina L.K., Dovydenko K.S.

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This work is licensed under a Creative Commons Attribution 4.0 International License.
 


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