Publications by authors named "Yoshihiro Nawa"

Article Synopsis
  • The study aimed to explore the genetic basis and pathogenic variants associated with autism spectrum disorder (ASD) by performing whole-genome sequencing on 57 Japanese ASD patients and their parents.
  • Researchers identified potentially pathogenic variants in about 31.6% of the patients, with a higher rate (43.5%) among those with comorbid intellectual developmental disorder (IDD), highlighting specific genes like PTEN and CHD7 linked to recognized ASD phenotypes.
  • The findings emphasize the importance of understanding the genetic underpinnings of ASD to aid in clinical diagnosis and treatment, though no significant results were found regarding short tandem repeats or polygenic risk scores.
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Article Synopsis
  • - The study investigates the link between rare copy number variations (CNVs) in synaptic genes and bipolar disorder (BD) in a Japanese population, using genome hybridization techniques on nearly 2,000 BD patients and 2,760 controls.
  • - Results indicate a strong association between the RNF216 gene and BD, with significant findings also related to postsynaptic membrane components, suggesting these genetic factors contribute to BD risk.
  • - The findings enhance understanding of BD's genetic underpinnings, highlighting the importance of CNVs in gene regions that may influence the disorder's development.
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Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) and autism spectrum disorder (ASD). In this study, we investigated the association of genes in the 3q29 region with SCZ and ASD.

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Recent genetic studies have found common genomic risk variants among psychiatric disorders, strongly suggesting the overlaps in their molecular and cellular mechanism. Our research group identified the variant in ASTN2 as one of the candidate risk factors across these psychiatric disorders by whole-genome copy number variation analysis. However, the alterations in the human neuronal cells resulting from ASTN2 variants identified in patients remain unknown.

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Whole genome analysis has identified rare copy number variations (CNV) that are strongly involved in the pathogenesis of psychiatric disorders, and 3q29 deletion has been found to have the largest effect size. The 3q29 deletion mice model (3q29-del mice) has been established as a good pathological model for schizophrenia based on phenotypic analysis; however, circadian rhythm and sleep, which are also closely related to neuropsychiatric disorders, have not been investigated. In this study, our aims were to reevaluate the pathogenesis of 3q29-del by recreating model mice and analyzing their behavior and to identify novel new insights into the temporal activity and temperature fluctuations of the mouse model using a recently developed small implantable accelerometer chip, Nano-tag.

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Aim: The present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case-control sample.

Method: Array comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP-CNVs) in PRKN and examined their association with SCZ and ASD.

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A number of genomic mutations that are thought to be strongly involved in the development of schizophrenia (SCZ) and autism spectrum disorder (ASD) have been identified. Abnormalities involving oligodendrocytes have been reported in SCZ, and as a related gene, oligodendrocyte lineage transcription factor 2 () has been reported to be strongly associated with SCZ. In this study, based on the common disease-rare variant hypothesis, target sequencing of candidate genes was performed to identify rare mutations with a high effect size and the possibility that the identified mutations may increase the risks of SCZ and ASD in the Japanese population.

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Article Synopsis
  • Chromatin remodeling is crucial for neural development and its dysfunction is linked to autism spectrum disorder (ASD) and schizophrenia (SCZ).
  • A study was conducted on genetic variants within four BAF chromatin remodeling genes, comparing 185 ASD patients, 432 SCZ patients, and 517 controls from the Japanese population.
  • The findings revealed significant enrichment of rare missense variants in ASD, suggesting that these genetic changes may contribute to the susceptibility of both ASD and SCZ.
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Article Synopsis
  • The study investigates the differences and similarities in copy number variations (CNVs) related to bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD) using data from 8708 Japanese individuals.
  • It reveals that BD has a greater burden of smaller exonic deletions, while SCZ and ASD show a prevalence of larger exonic CNVs, with notable differences in the effect sizes and distributions of these CNVs across disorders.
  • Despite these differences, some shared molecular mechanisms, particularly in chromatin biology, were identified, and certain synaptic genes were linked to BD risk, suggesting potential pathways for further research into its causes.
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Background: Most sequencing studies of schizophrenia (SCZ) have focused on de novo genetic variants due to interpretability. However, investigating shared rare variants among patients in the same multiplex family is also important. Relatively large-scale analyses of SCZ multiplex families have been done in Caucasian populations, but whether detected variants are also pathogenic in the Japanese population is unclear because of ethnic differences in rare variants.

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Disabled 1 (DAB1) is an intracellular adaptor protein in the Reelin signaling pathway and plays an essential role in correct neuronal migration and layer formation in the developing brain. DAB1 has been repeatedly reported to be associated with neurodevelopmental disorders including schizophrenia (SCZ) and autism spectrum disorders (ASD) in genetic, animal, and postmortem studies. Recently, increasing attention has been given to rare single-nucleotide variants (SNVs) found by deep sequencing of candidate genes.

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Dysregulation of epigenetic processes involving histone methylation induces neurodevelopmental impairments and has been implicated in schizophrenia (SCZ) and autism spectrum disorder (ASD). Variants in the gene encoding lysine demethylase 4C (KDM4C) have been suggested to confer a risk for such disorders. However, rare genetic variants in KDM4C have not been fully evaluated, and the functional impact of the variants has not been studied using patient-derived cells.

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Purpose: We assessed lateralization of interictal epileptiform discharges (IEDs) in children with intractable epilepsy secondary to tuberous sclerosis complexes (TSCs) during rapid eye movement sleep (R), compared with non-rapid eye movement sleep (NR) and wakefulness (W), to determine epileptogenicity of R-IEDs.

Methods: We retrospectively studied 23 children with TSC, who underwent prolonged scalp video-electroencephalography (EEG) and magnetic resonance imaging (MRI). We determined the lateralization of ictal EEG, clinical semiology, and the largest tuber on MRI.

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