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波兰一女子患有多发脑动静脉畸形，该女子的首个潜在因果遗传变异得到记录。

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

机构信息

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

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

出版信息

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

DOI:10.3390/genes14081535
PMID:37628586
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10454152/
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 , , and , the latter also called . In this article, we describe a single-nucleotide variant in the gene in a 23-year-old Polish female with CCM. The NM_007217.4 (): 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.

摘要

脑内海绵状血管畸形（CCMs）在中枢神经系统中较为常见。它们有两种形式，散发性和家族性（FCCMs）。有三个基因被认为与 FCCM 相关，包括 KRIT1、CCM2 和 PDCD10，后者也称为 MAGI2。在本文中，我们描述了一位 23 岁波兰女性 CCM 患者 KRIT1 基因中的单核苷酸变异。NM_007217.4（）：c.395+1G>A 变异破坏了第六外显子之后的经典剪接供体位点。这是波兰首例经基因特征鉴定的 CCM（FCCM）病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/baeb9367c6c7/genes-14-01535-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/b10e26e463d1/genes-14-01535-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/f718c47b52ab/genes-14-01535-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/e639d702a346/genes-14-01535-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/baeb9367c6c7/genes-14-01535-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/b10e26e463d1/genes-14-01535-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/f718c47b52ab/genes-14-01535-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/e639d702a346/genes-14-01535-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce8/10454152/baeb9367c6c7/genes-14-01535-g004.jpg

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