ArticleEuropean journal of human genetics : EJHG2013
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 76 citations in OpenAlex.
- Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1.Nature communications · 2026Article
- Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment.Nature communications · 2026Article
- Systematic assessment of structural variant annotation tools for genomic interpretation.Life science alliance · 2025Article
- Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.Frontiers in genetics · 2023Article
- Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.Italian journal of pediatrics · 2022Article
- Bridging between Mouse and Human Enhancer-Promoter Long-Range Interactions in Neural Stem Cells, to Understand Enhancer Function in Neurodevelopmental Disease.International journal of molecular sciences · 2022Article
- Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.International journal of molecular sciences · 2022Review
- Multifaceted Functions of Protein Kinase D in Pathological Processes and Human Diseases.Biomolecules · 2021Review
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.Molecular cytogenetics · 2020Article
- Review
- Genetic Analysis ofIranian journal of child neurology · 2019Article
- A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.Molecular cytogenetics · 2019Article
- DelineatingNeurology. Genetics · 2018Article
- A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.The Journal of pediatrics · 2018Article
- Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.European journal of human genetics : EJHG · 2018Article
- Regulatory variants of FOXG1 in the context of its topological domain organisation.European journal of human genetics : EJHG · 2018Article
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nature genetics · 2017Article
- Article
- Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.Molecular cytogenetics · 2016Article
- CAGE-defined promoter regions of the genes implicated in Rett Syndrome.BMC genomics · 2014Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. We report the clinical features and array CGH findings of three atypical Rett syndrome patients who had severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia. In addition, the females had a seizure disorder, agenesis of the corpus callosum and subtle dysmorphism. All three were found to have an interstitial deletion of 14q12. The deleted region in common included the PRKD1 gene but not the FOXG1 gene. Gene expression analysis suggested a decrease in FOXG1 levels in two of the patients. Screening of 32 atypical Rett syndrome patients did not identify any pathogenic mutations in the PRKD1 gene, although a previously reported frameshift mutation affecting FOXG1 (c.256dupC, p.Gln86ProfsX35) was identified in a patient with the congenital Rett syndrome variant. There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene. We propose that the primary defect in these patients is misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1.
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