ArticleEuropean journal of human genetics : EJHG2015
Next-generation sequencing in X-linked intellectual disability.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 149 citations in OpenAlex.
- Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.European journal of human genetics : EJHG · 2017Pooled it
- Socio-genomics of intellectual disability in African populations: top research-producing countries.Journal of community genetics · 2026Review
- OPHN1-related neurodevelopmental disorders: clinical and genetic findings with novel variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.Human molecular genetics · 2026Article
- Further phenotypical delineation of DLG3-related neurodevelopmental disorders.European journal of human genetics : EJHG · 2025Article
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- Case Report: Cabezas syndrome caused byFrontiers in neuroscience · 2025Article
- Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.BMC pediatrics · 2024Review
- Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.BMC medical genomics · 2024Article
- Identification of a DLG3 stop mutation in the MRX20 family.European journal of human genetics : EJHG · 2024Article
- Turner syndrome and neuropsychological abnormalities: a review and case series.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024Review
- Preliminary Study on Clinical Characteristics and Pathogenesis ofPharmacogenomics and personalized medicine · 2024Article
- Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.BMC medical genomics · 2023Review
- Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.BMC neurology · 2023Article
- Natural Course ofChildren (Basel, Switzerland) · 2023Article
- The Genetics of Intellectual Disability.Brain sciences · 2023Review
- The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.Frontiers in neuroscience · 2023Review
- Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.The FEBS journal · 2022Review
8 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has hitherto hampered the systematic screening of large patient cohorts. We performed targeted enrichment and next-generation sequencing of 107 XLID genes in a cohort of 150 male patients. Hundred patients had sporadic intellectual disability, and 50 patients had a family history suggestive of XLID. We also analysed a sporadic female patient with severe ID and epilepsy because she had strongly skewed X-inactivation. Target enrichment and high parallel sequencing allowed a diagnostic coverage of >10 reads for ~96% of all coding bases of the XLID genes at a mean coverage of 124 reads. We found 18 pathogenic variants in 13 XLID genes (AP1S2, ATRX, CUL4B, DLG3, IQSEC2, KDM5C, MED12, OPHN1, SLC9A6, SMC1A, UBE2A, UPF3B and ZDHHC9) among the 150 male patients. Thirteen pathogenic variants were present in the group of 50 familial patients (26%), and 5 pathogenic variants among the 100 sporadic patients (5%). Systematic gene dosage analysis for low coverage exons detected one pathogenic hemizygous deletion. An IQSEC2 nonsense variant was detected in the female ID patient, providing further evidence for a role of this gene in encephalopathy in females. Skewed X-inactivation was more frequently observed in mothers with pathogenic variants compared with those without known X-linked defects. The mutation rate in the cohort of sporadic patients corroborates previous estimates of 5-10% for X-chromosomal defects in male ID patients.
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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.