ArticleAmerican journal of medical genetics. Part A2021
Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.Human molecular genetics · 2026Article
- Emerging role ofFrontiers in molecular neuroscience · 2026Article
- Local chromatin context informs transcriptional outcomes for the histone demethylase KDM5.Epigenetics & chromatin · 2025Article
- First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights.BMC pediatrics · 2025Article
- A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications.Italian journal of pediatrics · 2025Article
- Using team-based precision medicine to advance understanding of rare genetic brain disorders.Journal of neurodevelopmental disorders · 2024Review
- Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone DemethylaseCells · 2023Article
- Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.European journal of human genetics : EJHG · 2023Article
- A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.BMC neurology · 2022Article
- Expanding the Spectrum ofGenes · 2022Article
- Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.The FEBS journal · 2022Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Loss of function variants in the lysine demethylase 5C (KDM5C) gene account for approximately 0.7-2.8% of X-linked intellectual disability (ID) cases and pose significant burdens for patients and their caregivers. To date, 45 unique variants in KDM5C have been reported in individuals with ID. As a rare disorder, its etiology and natural history remain an area of active investigation, with treatment limited to symptom management. Previous studies have found that males present with moderate to severe ID with significant syndromic comorbidities such as epilepsy, short stature, and craniofacial abnormalities. Although not as well characterized, females have been reported to predominantly display mild to moderate ID with approximately half being asymptomatic. Here, we present caregiver-reported data for 37 unrelated individuals with pathogenic variants in KDM5C; the largest cohort reported to-date. We find that up to 70% of affected females were reported to display syndromic features including gastrointestinal dysfunction and hearing impairment. Additionally, more than half of individuals reported a diagnosis of autism spectrum disorder or described features consistent with this spectrum. Our data thus provide further evidence of sexually dimorphic heterogeneity in disease presentation and suggest that pathogenic variants in KDM5C may be more common than previously assumed.
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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 Socratic graph.