The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain-Reference-Cited by-同舟云学术

The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain

Published:2023-07-27 Issue:8 Volume:14 Page:1535
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Szczygieł-Pilut Elżbieta¹²,Pilut Daniel³,Korostynski Michal⁴^ORCID,Kopiński Piotr⁵⁶,Potaczek Daniel P.⁷⁸⁹^ORCID,Wypasek Ewa⁶¹⁰

Affiliation:

1. Department of Neurology with the Stroke Unit and Sub-Department of Neurological Rehabilitation, John Paul II Hospital, 31-202 Krakow, Poland

2. Department of Psychology and Psychopathology of Human Development, Faculty of Philosophy, John Paul II Pontifical University, 31-002 Krakow, Poland

3. Individual Clinical Practice, 31-534 Krakow, Poland

4. Laboratory of Pharmacogenomics, Department of Molecular Neuropharmacology, Maj Institute of Pharmacology, Polish Academy of Sciences, 31-343 Krakow, Poland

5. Department of Lung Diseases, Cancer and Tuberculosis, Collegium Medicum, Nicolaus Copernicus University, 85-067 Bydgoszcz, Poland

6. Krakow Center for Medical Research and Technology, John Paul II Hospital, 31-202 Krakow, Poland

7. Translational Inflammation Research Division & Core Facility for Single Cell Multiomics, Medical Faculty, Philipps University Marburg, 35043 Marburg, Germany

8. Center for Infection and Genomics of the Lung (CIGL), Universities of Giessen and Marburg Lung Center (UGMLC), 35392 Giessen, Germany

9. Bioscientia MVZ Labor Mittelhessen GmbH, 35394 Giessen, Germany

10. Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Kraków, Poland

Abstract

Cerebral cavernous malformations (CCMs) are relatively common in the central nervous system. They occur in two forms, sporadic and familial (FCCMs). Three genes are recognized to be associated with FCCM, including CCM1, CCM2, and CCM3, the latter also called PDCD10. In this article, we describe a single-nucleotide variant in the PDCD10 gene in a 23-year-old Polish female with CCM. The NM_007217.4 (PDCD10): c.395+1G>A variant destroys the canonical splice donor site following exon 6. This is the first reported genetically characterized case of CCM (FCCM) in Poland.

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/14/8/1535/pdf

Reference30 articles.

1. Review of genetic and neuroimaging tests in the diagnosis of strokes of rare etiology;Pera;Pol. Neurol. Rev.,2017

2. Morrison, L., and Akers, A. (2003). Gene Reviews, University of Washington.

3. The utility of preoperative diffusion tensor imaging in the surgical management of brainstem cavernous malformations;Flores;J. Neurosurg.,2015

4. Cerebral cavernous malformations: Typical and atypical imaging characteristics;Kuroedov;J. Neuroimaging,2023

5. Modern management of brainstem cavernous malformations;Duckworth;Neurol. Clin.,2010