Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

PloS One
Claudia SantoroGiulio Piluso

Abstract

Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations. When associated with other medical conditions, such as neurofibromatosis type 1, this vasculopathy is frequently reported as moyamoya syndrome. Intriguingly, most cases of moyamoya-complicated neurofibromatosis type 1 have been described in Caucasians, inverting the population ratio observed in Asians, although prevalence of neurofibromatosis type 1 is constant worldwide. Our aim was to investigate whether, among Caucasians, additive genetic factors may contribute to the occurrence of moyamoya in neurofibromatosis type 1. Whole exome sequencing was carried out on an Italian family with moyamoya-complicated neurofibromatosis type 1 to identify putative genetic modifiers independent of the NF1 locus and potentially involved in moyamoya pathogenesis. Results were validated in an unrelated family of German ancestry. We identified the p.P186S substitution (rs35857561) in MRVI1 that segregated with moyamoya syndrome in both the Italian and German family. The rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neur...Continue Reading

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Citations

Feb 29, 2020·Microcirculation : the Official Journal of the Microcirculatory Society, Inc·Oliver SanderMarkus Kraemer
Aug 20, 2019·Journal of Neurology·Shambaditya DasMarkus Kraemer
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Jan 25, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Fouad MitriMarkus Kraemer
Mar 17, 2021·European Journal of Medical Genetics·Claudia SantoroGiulio Piluso

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Methods Mentioned

BETA
electrophoresis
exome sequencing
Illumina sequencing
PCR
DNA Assay
PCA

Software Mentioned

ExAC
Genome Analysis Toolkit ( GATK )
Burrows Aligner
CytoGenomics
Haloplex
ANNOVAR
Scansite

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