WHOLE-EXOME SEQUENCING REVEALS PATHOGENIC SIRT1 VARIANT IN BRAIN ARTERIOVENOUS MALFORMATION: A CASE REPORT
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Date
2022
Authors
Mukhtarova, Kymbat
Zholdybayeva, Elena
Kairov, Ulykbek
Akhmetollayev, Ilyas
Nurimanov, Chingiz
Kulmirzayev, Marat
Makhambetov, Yerbol
Ramankulov, Yerlan
Journal Title
Journal ISSN
Volume Title
Publisher
Genes
Abstract
Arteriovenous malformations of the brain (bAVMs) are plexuses of pathological arteries
and veins that lack a normal capillary system between them. Intracranial hemorrhage (hemorrhagic
stroke) is the most frequent clinical manifestation of AVM, leading to lethal outcomes that are
especially high among children and young people. Recently, high-throughput genome sequencing
methods have made a notable contribution to the research progress in this subject. In particular,
whole-exome sequencing (WES) methods allow the identification of novel mutations. However, the
genetic mechanism causing AVM is still unclear. Therefore, the aim of this study was to investigate
the potential genetic mechanism underlying AVM.We analyzed the WES data of blood and tissue
samples of a 30-year-old Central Asian male diagnosed with AVM. We identified 54 polymorphisms
in 43 genes. After in-silica overrepresentation enrichment analysis of the polymorphisms, the SIRT1
gene variant (g.67884831C>T) indicated a possible molecular mechanism of bAVM. Further studies
are required to evaluate the functional impact of SIRT1 g.67884831C>T, which may warrant further
replication and biological investigations related to sporadic bAVM.
Description
Keywords
Type of access: Open Access, brain arteriovenous malformation, whole exome sequencing, case study, SNP, somatic mutations
Citation
Mukhtarova, K., Zholdybayeva, E., Kairov, U., Akhmetollayev, I., Nurimanov, C., Kulmirzayev, M., Bekmukhambetov, Y., & Ramankulov, Y. (2022). Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report. Genes, 13(10), 1689. https://doi.org/10.3390/genes13101689