High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations.
brain arteriovenous malformations
exome
molecular signaling
pathogenic variants
vascular differentiation
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
15
03
2019
accepted:
07
02
2020
entrez:
19
3
2020
pubmed:
19
3
2020
medline:
19
3
2020
Statut:
epublish
Résumé
Molecular signaling that leads to brain arteriovenous malformation (bAVM) is to date elusive and this is firstly due to the low frequency of familial cases. Conversely, sporadic bAVM is the most diffuse condition and represents the main source to characterize the genetic basis of the disease. Several studies were conducted in order to detect both germ-line and somatic mutations linked to bAVM development and, in this context, next generation sequencing technologies offer a pivotal resource for the amount of outputted information. We performed whole exome sequencing on a young boy affected by sporadic bAVM. Paired-end sequencing was conducted on an Illumina platform and filtered variants were validated by Sanger sequencing. We detected 20 likely gene-disrupting variants affecting as many loci. Of these variants, 11 are inherited novel variants and one is a
Identifiants
pubmed: 32184807
doi: 10.3389/fgene.2020.00146
pmc: PMC7059193
doi:
Types de publication
Case Reports
Langues
eng
Pagination
146Informations de copyright
Copyright © 2020 Scimone, Donato, Alafaci, Granata, Rinaldi, Longo, D’Angelo and Sidoti.
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