ArticleJournal of intellectual disability research : JIDR2019
Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
Article in Journal of intellectual disability research : JIDR, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Development of a Cognitive Assessment Battery for Adolescents and Adults with Kabuki Syndrome Type 1.Research square · 2026Article
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- Attention challenges in Kabuki syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Neurodevelopmental disorders: 2024 update.Free neuropathology · 2024Article
- Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.Journal of the International Neuropsychological Society : JINS · 2023Article
- Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.Journal of neurodevelopmental disorders · 2023Review
- Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.Journal of intellectual disability research : JIDR · 2023Article
- Sleep disturbance is a common feature of Kabuki syndrome.American journal of medical genetics. Part A · 2022Article
- Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.Frontiers in genetics · 2022Article
- The Impact of Environmental Factors on Monogenic Mendelian Diseases.Toxicological sciences : an official journal of the Society of Toxicology · 2021Article
- Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome.Molecular therapy. Methods & clinical development · 2021Article
- KMT2C/D COMPASS complex-associated diseases [KClinical epigenetics · 2020Review
- Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.Journal of intellectual disability research : JIDR · 2019Article
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Authors and funding
3 authors at 2 institutions in 2 countries.
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Abstract
backgroundKabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, and most have intellectual disability. Recent studies on a mouse model of KS suggest disruption of normal adult neurogenesis in the granule cell layer of the dentate gyrus of the hippocampus. These mutant mice also demonstrate hippocampal memory defects compared with littermates, but this phenotype is rescued postnatally with agents that target the epigenetic machinery. If these findings are relevant to humans with KS, we would expect significant and disproportionate disruption of visuospatial functioning in these individuals.
methodsTo test this hypothesis, we have compiled a battery to robustly explore visuospatial function. We prospectively recruited 22 patients with molecularly confirmed KS and 22 IQ-matched patients with intellectual disability.
resultsWe observed significant deficiencies in visual motor, visual perception and visual motor memory in the KS group compared with the IQ-matched group on several measures. In contrast, language function appeared to be marginally better in the KS group compared with the IQ-matched group in a sentence comprehension task.
conclusionsTogether, our data suggest specific disruption of visuospatial function, likely linked to the dentate gyrus, in individuals with KS and provide the groundwork for a novel and specific outcome measure for a clinical trial in a KS population.
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