ArticleBMC medical genetics2017
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- FoxG1 as a Potential Therapeutic Target for Alzheimer's Disease: Modulating NLRP3 Inflammasome via AMPK/mTOR Autophagy Pathway.Cellular and molecular neurobiology · 2024Article
- Identification of aFrontiers in molecular neuroscience · 2022Article
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.Molecular cytogenetics · 2020Article
- Review
- Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- From Cannabinoids and Neurosteroids to Statins and the Ketogenic Diet: New Therapeutic Avenues in Rett Syndrome?Frontiers in neuroscience · 2019Review
- Cognition and Evolution of Movement Disorders ofFrontiers in neurology · 2019Article
- A case of congenital Rett variant in a Chinese patient caused by aAnnals of Saudi medicineArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).
methodsFour hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing.
resultsFour FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations. These mutations included one missense and three micro-insertion mutations. Overall, 0.7% (3/418) of patients who had RTT in our cohort had FOXG1 mutations. All patients had early global developmental delays followed later by severe mental retardation. None of the patients acquired speech or purposeful hand movements, and all of them presented with severe hypotonia, epilepsy, and hypoplasia of the corpus callosum.
conclusionsOur findings extend the spectrum of FOXG1 mutations and the clinical features of RTT in Chinese patients. We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations.
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