ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2017
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans.Translational psychiatry · 2020Pooled it
- The p.L218P variant in WDR83 disrupts neuronal development, leading to neurodevelopmental disorder.Scientific reports · 2025Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- Multi-omic analysis of the ciliogenic transcription factorbioRxiv : the preprint server for biology · 2025Article
- Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes.Nature communications · 2024Article
- Molecular Alterations of the Endocannabinoid System in Psychiatric Disorders.International journal of molecular sciences · 2022Review
- DNA methylation signatures in human neonatal blood following maternal antenatal corticosteroid treatment.Translational psychiatry · 2022Article
- Toward Precision Medicine in ADHD.Frontiers in behavioral neuroscience · 2022Review
- Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts.Translational psychiatry · 2020Article
- Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission.European journal of human genetics : EJHG · 2020Article
- Citalopram-induced pathways regulation and tentative treatment-outcome-predicting biomarkers in lymphoblastoid cell lines from depression patients.Translational psychiatry · 2020Article
- MAPT haplotype-stratified GWAS reveals differential association for AD risk variants.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.Journal of child psychology and psychiatry, and allied disciplines · 2020Article
- One Single Nucleotide Polymorphism of theDiseases (Basel, Switzerland) · 2020Article
- Genetics of attention deficit hyperactivity disorder.Molecular psychiatry · 2019Review
- Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.JAMA pediatrics · 2019Article
- Article
- Integrated Analysis of Brain Transcriptome Reveals Convergent Molecular Pathways in Autism Spectrum Disorder.Frontiers in psychiatry · 2019Article
- Review
- Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2018Review
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16 authors.
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Abstract
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83. Separately, in 117 unrelated probands with sporadic ADHD, we sequenced a panel of 26 genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD) to evaluate whether variation in ASD/ID-associated genes were also present in participants with ADHD. Only one putative deleterious variant (Gln600STOP) in CHD1L was identified; this was found in a single proband. Notably, no other nonsense, splice, frameshift, or highly conserved missense variants in the 26 gene panel were identified and validated. These data suggest that de novo variant analysis in families with independently adjudicated sporadic ADHD diagnosis can identify novel genes implicated in ADHD pathogenesis. Moreover, that only one of the 128 cases (0.8%, 11 exome, and 117 MIP sequenced participants) had putative deleterious variants within our data in 26 genes related to ID and ASD suggests significant independence in the genetic pathogenesis of ADHD as compared to ASD and ID phenotypes. © 2017 Wiley Periodicals, Inc.
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