ArticlePloS one2018
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 29 citations in OpenAlex.
- Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.Cellular and molecular neurobiology · 2023Article
- Novel Functional Features of cGMP Substrate Proteins IRAG1 and IRAG2.International journal of molecular sciences · 2023Review
- The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups.Genes & genomics · 2023Article
- Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants ofCancers · 2023Article
- Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cancers · 2023Review
- Polysomnographic study in pediatric neurofibromatosis type 1.Frontiers in neurology · 2023Article
- Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel MissenseInternational journal of molecular sciences · 2022Review
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- Identification of novel proteins for lacunar stroke by integrating genome-wide association data and human brain proteomes.BMC medicine · 2022Article
- A novel seven-gene risk profile in BALF to identify high-risk patients with idiopathic pulmonary fibrosis.Journal of thoracic disease · 2022Article
- Identification of three hub genes related to the prognosis of idiopathic pulmonary fibrosis using bioinformatics analysis.International journal of medical sciences · 2022Article
- Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications.Cancers · 2021Review
- RNF213 and GUCY1A3 in Moyamoya Disease: Key Regulators of Metabolism, Inflammation, and Vascular Stability.Frontiers in neurology · 2021Review
- Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1.Cancers · 2020Article
- Thalassemia and Moyamoya syndrome: unfurling an intriguing association.Journal of neurology · 2019Review
- Article
- Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients.Journal of neurology · 2019Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeMoyamoya 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.
methodsWhole 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.
resultsWe identified the p.P186S substitution (rs35857561) in MRVI1 that segregated with moyamoya syndrome in both the Italian and German family.
conclusionsThe rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neurofibromatosis type 1. MRVI1 is a functional partner of ITPR1, PRKG1 and GUCY1A3, which are involved in response to nitric oxide. Mutations in GUCY1A3 have been recently linked to a recessive syndromic form of moyamoya with esophageal achalasia.
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