ArticleHuman genetics2016
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 67 citations in OpenAlex.
- A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome.Molecular genetics & genomic medicine · 2026Article
- Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.Brain : a journal of neurology · 2026Article
- Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum.Journal of clinical medicine · 2026Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant.Brain : a journal of neurology · 2025Article
- Genomic insights into Rett syndrome-like features in Bangladeshi participants.Genetics in medicine open · 2025Article
- Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.Frontiers in genetics · 2024Article
- Article
- Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.Cellular and molecular life sciences : CMLS · 2023Article
- Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.International journal of molecular sciences · 2023Article
- Efficacy of antiseizure medication in a mouse model of HCN1 developmental and epileptic encephalopathy.Epilepsia · 2023Article
- Insights into cognitive and behavioral comorbidities ofFrontiers in neuroscience · 2023Article
- Cation leak: a common functional defect causingBrain communications · 2023Article
- Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.International journal of molecular sciences · 2022Article
- Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models ofeLife · 2022Article
- Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.Frontiers in molecular biosciences · 2022Review
- NovelFrontiers in molecular neuroscience · 2022Article
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.International journal of molecular sciences · 2021Review
- Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.Genes · 2021Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and FOXG1. However, a subset of RTT patients remains that do not carry any mutation in the described genes. Whole exome sequencing was carried out in a cohort of 21 female probands with clinical features overlapping with those of RTT, but without mutations in the customarily studied genes. Candidates were functionally validated by assessing the appearance of a neurological phenotype in Caenorhabditis elegans upon disruption of the corresponding ortholog gene. We detected pathogenic variants that accounted for the RTT-like phenotype in 14 (66.6 %) patients. Five patients were carriers of mutations in genes already known to be associated with other syndromic neurodevelopmental disorders. We determined that the other patients harbored mutations in genes that have not previously been linked to RTT or other neurodevelopmental syndromes, such as the ankyrin repeat containing protein ANKRD31 or the neuronal acetylcholine receptor subunit alpha-5 (CHRNA5). Furthermore, worm assays demonstrated that mutations in the studied candidate genes caused locomotion defects. Our findings indicate that mutations in a variety of genes contribute to the development of RTT-like phenotypes.
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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.