ArticleMolecular syndromology2013
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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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
11 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.Frontiers in neurology · 2022Review
- FOXG1 Directly Suppresses Wnt5a During the Development of the Hippocampus.Neuroscience bulletin · 2021Article
- Review
- Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects.Molecular brain · 2019Article
- Proteolytic cleavage of host proteins by the Group IV viral proteases of Venezuelan equine encephalitis virus and Zika virus.Antiviral research · 2019Article
- Foxg1 Regulates the Postnatal Development of Cortical Interneurons.Cerebral cortex (New York, N.Y. : 1991) · 2019Article
- Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.Molecular cytogenetics · 2016Article
- Article
- Genetic insights into the functional elements of language.Human genetics · 2013Review
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome is a well-defined neurodevelopmental disorder comprising characteristic clinical features of gait abnormalities, loss of purposeful hand movements, stereotypies, and autistic features. Mutations in the FOXG1 gene have been associated with a congenital variant of Rett syndrome. This is a report on the outcome of routine genetic testing to identify FOXG1 mutations in a patient population presenting with features of the FOXG1 syndrome, an entity thought to be distinct, but similar, to the congenital variant of Rett syndrome. We performed PCR and sequencing analysis of FOXG1 in MECP2-negative patients (n = 12) with phenotypic features of FOXG1 syndrome. FOXG1 MLPA analysis was also carried out. No mutations in FOXG1 were identified using this approach. We were unable to identify patients with features of the FOXG1 syndrome as having aberrant FOXG1 gene loci. Clinical notes are inherently subjective and may lack sufficient detail to reliably identify those with a syndromal spectrum. The results call into question the objectivity of outlining a complex syndrome according to clinical manifestations and highlight the need for a greater involvement of molecular diagnostic techniques in the diagnosis of Rett-like disorders.
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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.