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

Elżbieta Szczygieł-Pilut; Daniel Pilut; Michal Korostynski; Piotr Kopiński; Daniel P Potaczek; Ewa Wypasek

doi:10.3390/genes14081535

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

Genes (Basel). 2023 Jul 27;14(8):1535. doi: 10.3390/genes14081535.

Authors

Elżbieta Szczygieł-Pilut^{1

2}, Daniel Pilut³, Michal Korostynski⁴, Piotr Kopiński^{5

6}, Daniel P Potaczek^{7

8

9}, Ewa Wypasek^{6

10}

Affiliations

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.

Keywords: CCM3 gene); cerebral cavernous malformation (CCM); familial CCM (FCCM); programmed cell death 10 gene (PDCD10 gene.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Adult
Brain*
Causality
Central Nervous System
Female
Humans
Poland
Young Adult

Grants and funding

This research received no external funding.