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

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 si...

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Autores principales: Szczygieł-Pilut, Elżbieta, Pilut, Daniel, Korostynski, Michal, Kopiński, Piotr, Potaczek, Daniel P., Wypasek, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454152/
https://www.ncbi.nlm.nih.gov/pubmed/37628586
http://dx.doi.org/10.3390/genes14081535
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author Szczygieł-Pilut, Elżbieta
Pilut, Daniel
Korostynski, Michal
Kopiński, Piotr
Potaczek, Daniel P.
Wypasek, Ewa
author_facet Szczygieł-Pilut, Elżbieta
Pilut, Daniel
Korostynski, Michal
Kopiński, Piotr
Potaczek, Daniel P.
Wypasek, Ewa
author_sort Szczygieł-Pilut, Elżbieta
collection PubMed
description 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.
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spelling pubmed-104541522023-08-26 The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain Szczygieł-Pilut, Elżbieta Pilut, Daniel Korostynski, Michal Kopiński, Piotr Potaczek, Daniel P. Wypasek, Ewa Genes (Basel) Case Report 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. MDPI 2023-07-27 /pmc/articles/PMC10454152/ /pubmed/37628586 http://dx.doi.org/10.3390/genes14081535 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Szczygieł-Pilut, Elżbieta
Pilut, Daniel
Korostynski, Michal
Kopiński, Piotr
Potaczek, Daniel P.
Wypasek, Ewa
The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
title The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
title_full The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
title_fullStr The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
title_full_unstemmed The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
title_short The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
title_sort first potentially causal genetic variant documented in a polish woman with multiple cavernous malformations of the brain
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454152/
https://www.ncbi.nlm.nih.gov/pubmed/37628586
http://dx.doi.org/10.3390/genes14081535
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