ArticleScientific reports2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- 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
- Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.BMC medical genomics · 2023Article
- Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.International journal of molecular sciences · 2022Article
- Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.Molecular therapy. Nucleic acids · 2022Article
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.International journal of molecular sciences · 2021Review
- Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.Genes · 2021Review
- Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.Molecular genetics & genomic medicine · 2019Article
- Review
- X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.Scientific reports · 2019Article
- Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.International journal of molecular sciences · 2019Review
- Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.Molecular genetics & genomic medicine · 2019Article
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.Nature communications · 2019Article
- Epilepsy and genetic in Rett syndrome: A review.Brain and behavior · 2019Article
- A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.Human molecular genetics · 2019Article
- De novo mosaicClinical case reports · 2019Article
- Atypical Rett Syndrome and Intractable Epilepsy With NovelChild neurology open · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 20 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study.
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