ArticleJournal of child neurology2010
SPRED 1 mutations in a neurofibromatosis clinic.
Article in Journal of child neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Autism spectrum disorder profiles in RASopathies: A systematic review.Molecular genetics & genomic medicine · 2024Pooled it
- Diagnoses of double heterozygous NF1 variants and dual RASopathy.Molecular and cellular pediatrics · 2026Review
- Research Progress on the Regulation Mechanism of Key Signal Pathways Affecting the Prognosis of Glioma.Frontiers in molecular neuroscience · 2022Review
- MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.Molecular autism · 2021Article
- Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.Cancers · 2020Article
- Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.Birth defects research · 2020Review
- Legius Syndrome and its Relationship with Neurofibromatosis Type 1.Acta dermato-venereologica · 2020Article
- Article
- Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.The Journal of biological chemistry · 2016Article
- Review
- A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.Genes & development · 2012Article
- The SPRED1 Variants Repository for Legius Syndrome.G3 (Bethesda, Md.) · 2011Article
- Observations on intelligence and behavior in 15 patients with Legius syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2011Article
- Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1.Journal of pediatric endocrinology & metabolism : JPEM · 2011Article
- Legius syndrome in fourteen families.Human mutation · 2011Article
- NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.American journal of medical genetics. Part A · 2010Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Legius syndrome, caused by SPRED1 mutations, has phenotypic overlap with neurofibromatosis type 1 (NF1) without tumorigenic manifestations. Patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for NF1 were enrolled at the University of Utah NF Clinic, and SPRED1 mutation analysis was performed to identify the frequency of Legius syndrome within an NF1 clinic population. SPRED1 sequencing was performed on 151 individuals with the clinical diagnosis of NF1, and 2 individuals (1.3%) were found to have novel SPRED1 mutations, p.R18X and p.Q194X. The phenotypes for the 2 individuals with SPRED1 mutations included altered pigmentation without tumorigenesis. A specific SPRED1 haplotype allele was identified in 27 individuals. The frequency of SPRED1 mutations in patients meeting diagnostic criteria for NF1 in a hospital-based clinic is 1% to 2%. The likelihood an individual is harboring a SPRED1 mutation increases with age if multiple, nonpigmentary NF1 findings are absent. Legius syndrome patients may benefit from altered medical surveillance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.