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Volume 16
Issue 7
10.3390/genes16070726
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Case Report

Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis

by
Zornitsa Pavlova
1,2,*,
Sashka Zhelyazkova
3,
Mariana Gospodinova
4,
Anastasia Ormandjieva
1,
Tihomir Todorov
1,2,
Ognian Asenov
3,
Teodora Chamova
3,
Plamen Antimov
3,
Dilyana Mikova
5,
Yordan Palashev
6,
Ivailo Tournev
3,7 and
Albena Todorova
1,2,8
1
Independent Medico-Diagnostic Laboratory Genome Center “Bulgaria”, 1612 Sofia, Bulgaria
2
Genetic Medico-Diagnostic Laboratory Genica, 1463 Sofia, Bulgaria
3
Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital “Alexandrovska”, Medical University of Sofia, 1431 Sofia, Bulgaria
4
Expert Center for Transthyretin Cardiac Amyloidosis, University Hospital “St Ivan Rilski”, 1431 Sofia, Bulgaria
5
Department of Nuclear Medicine, University Hospital St Ivan Rilski, 1431 Sofia, Bulgaria
6
Clinical Center of Nuclear medicine and Radiology, Medical University, 1784 Sofia, Bulgaria
7
Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria
8
Department of Medical Chemistry and Biochemistry, Medical University Sofia, 1431 Sofia, Bulgaria
*
Author to whom correspondence should be addressed.
Genes 2025, 16(7), 726; https://doi.org/10.3390/genes16070726 (registering DOI)
Submission received: 30 May 2025 / Revised: 18 June 2025 / Accepted: 20 June 2025 / Published: 22 June 2025
(This article belongs to the Special Issue Advances in Neurogenetics and Neurogenomics)
Versions Notes

Abstract

Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disorder caused by pathogenic variants in the TTR gene. The destabilized mutant form of the transport protein transthyretin (TTR) leads to the extracellular deposition of amyloid fibrils. Materials and Methods: A 65-year-old female patient with suspected clinical diagnosis of ATTR was referred for genetic testing for pathogenic variants in the TTR gene after physical, neurological and cardiac testing. Results: The patient had had cardiac dysfunction, atrial fibrillation and supraventricular tachycardia for around 10 years before the suspected and confirmed cardiac amyloidosis. The molecular genetic testing showed a heterozygous pathogenic variant in exon 3 of the TTR gene NM_000371.4(TTR): c.258A>C, p.(Glu86Asp). This variant in the TTR gene is classified as pathogenic in accordance with ACMG/AMP for the interpretation of variants. Conclusions: The presented case of a very rare pathogenic variant in the TTR gene displays the valuable role of genetic testing on the way to clarifying a diagnosis.
Keywords: ATTRv; TTR gene; pathogenic variant ATTRv; TTR gene; pathogenic variant

Share and Cite

MDPI and ACS Style

Pavlova, Z.; Zhelyazkova, S.; Gospodinova, M.; Ormandjieva, A.; Todorov, T.; Asenov, O.; Chamova, T.; Antimov, P.; Mikova, D.; Palashev, Y.; et al. Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis. Genes 2025, 16, 726. https://doi.org/10.3390/genes16070726

AMA Style

Pavlova Z, Zhelyazkova S, Gospodinova M, Ormandjieva A, Todorov T, Asenov O, Chamova T, Antimov P, Mikova D, Palashev Y, et al. Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis. Genes. 2025; 16(7):726. https://doi.org/10.3390/genes16070726

Chicago/Turabian Style

Pavlova, Zornitsa, Sashka Zhelyazkova, Mariana Gospodinova, Anastasia Ormandjieva, Tihomir Todorov, Ognian Asenov, Teodora Chamova, Plamen Antimov, Dilyana Mikova, Yordan Palashev, and et al. 2025. "Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis" Genes 16, no. 7: 726. https://doi.org/10.3390/genes16070726

APA Style

Pavlova, Z., Zhelyazkova, S., Gospodinova, M., Ormandjieva, A., Todorov, T., Asenov, O., Chamova, T., Antimov, P., Mikova, D., Palashev, Y., Tournev, I., & Todorova, A. (2025). Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis. Genes, 16(7), 726. https://doi.org/10.3390/genes16070726

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