ArticleGenes2020
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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
22 citing papers in PubMed.
- Biological Context-Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder.Genetics research · 2026Article
- Phenotypic And Molecular Characteristics of Three Additional Patients WithBalkan journal of medical genetics : BJMG · 2025Article
- Further phenotypical delineation of DLG3-related neurodevelopmental disorders.European journal of human genetics : EJHG · 2025Article
- Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.Biomolecules · 2025Review
- Chromatin modifiers in neurodevelopment.Frontiers in molecular neuroscience · 2025Review
- PHF8/KDM7B: A Versatile Histone Demethylase and Epigenetic Modifier in Nervous System Disease and Cancers.Epigenomes · 2024Review
- Comprehensive evaluation of the child with global developmental delays or intellectual disability.Clinical and experimental pediatrics · 2024Article
- Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.Annals of neurology · 2024Article
- Novel Genetic Variant inNeurology. Genetics · 2024Article
- Diverse Clinical Phenotypes ofGenes · 2023Review
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Facial and ocular manifestations of male patients affected by theInternational journal of molecular epidemiology and genetics · 2023Review
- Variants inHGG advances · 2022Article
- IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.Clinical genetics · 2022Article
- Review
- Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.Journal of clinical laboratory analysis · 2022Article
- SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.Human genetics · 2022Article
- Article
- The different clinical facets ofFrontiers in cell and developmental biology · 2022Article
- Case Report: Identification of a novelFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation sequencing has clearly stimulated the gene discovery process and has become part of the diagnostic procedure. We have performed targeted next-generation sequencing of 82 XLID genes on 61 non-related male patients with suggestive non-syndromic XLID. These patients were initially referred to the molecular genetics laboratory to exclude Fragile X Syndrome. The cohort includes 47 male patients with suggestive X-linked family history of ID meaning that they had half-brothers or maternal cousins or uncles affected; and 14 male patients with ID and affected brothers whose mothers show skewed X-inactivation. Sequencing data analysis identified 17 candidate variants in 16 patients. Seven families could be re-contacted and variant segregation analysis of the respective eight candidate variants was performed:
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