This is an observational case–control study to discover differential mRNA expression and enrichment pathways through a genome-wide transcriptome study (GWTS) using microarray technology. For the validation of the significant differentially expressed mRNAs, we performed a qRT-PCR assay with a new cohort of cases and controls, and in situ hybridization (ISH), which will also allow us to locate significant differentially expressed mRNA.
Subjects
Subjects were selected from “CADAGENIA”, a registry in which patients with mutations in NOTCH3 have been consecutively recorded since 2017 from different parts of Spain, mostly Catalonia (Hospital Vall d’Hebron and Hospital del Mar, Barcelona). For matching purposes, control relatives (such as spouses or siblings) without a known NOTCH3 mutation were asked to enroll in the registry to avoid any potential bias due to differences between…
