Back to Search Start Over

SARS-CoV-2 infection activating a novel variant of the NOTCH3 gene and subsequently causing development of CADASIL.

Authors :
Król ZJ
Dorobek M
Dąbrowski M
Zielińska-Turek J
Mruk B
Walecki J
Sklinda K
Gil R
Pawlak A
Wojtaszewska M
Lejman A
Dobosz P
Zawadzki P
Pawłowska A
Szczepaniak M
Król D
Zaczyński A
Wierzba W
Source :
Archives of medical science : AMS [Arch Med Sci] 2022 Apr 04; Vol. 19 (6), pp. 1781-1794. Date of Electronic Publication: 2022 Apr 04 (Print Publication: 2023).
Publication Year :
2022

Abstract

Introduction: In the following study we describe the diagnostic process and further case analysis of a 30-year-old woman admitted with typical COVID-19 symptoms, who subsequently developed additional symptoms suggesting cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy (CADASIL).<br />Material and Methods: Other than the standard diagnostic procedures, whole genome sequencing (WGS) was used, which led to following findings. A new variant of the NOTCH3 gene, which led to CADASIL-like symptoms, was found, and it had been most likely activated by the SARS-CoV-2 infection. This novel variant in NOTCH3 has not been found in existing databases and has never been mentioned in research concerning CADASIL before.<br />Results: Furthermore, after subjecting the patient's close relatives to WGS it was found that no other examined person demonstrated the same genetic mutation.<br />Conclusions: It seems therefore that the new variant of NOTCH3 is of de novo origin in the patient's genome. Additionally, the relatively early onset of CADASIL and the unexpectedly severe COVID-19 infection suggest that the two occurred simultaneously: the infection with SARS-CoV-2 accelerated development of CADASIL symptoms and the unusual variant of the NOTCH3 gene contributed to the more severe course of COVID-19.<br />Competing Interests: The authors declare no conflict of interest.<br /> (Copyright: © 2022 Termedia & Banach.)

Details

Language :
English
ISSN :
1734-1922
Volume :
19
Issue :
6
Database :
MEDLINE
Journal :
Archives of medical science : AMS
Publication Type :
Academic Journal
Accession number :
38058732
Full Text :
https://doi.org/10.5114/aoms/146978