ArticleScientific reports2018
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed.
- Cross-generational transcriptomic effects of alcohol use disorder in third generation offspring.Scientific reports · 2026Article
- New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.NPJ genomic medicine · 2026Article
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- An epigenetic association analysis of childhood trauma in psychosis reveals possible overlap with methylation changes associated with PTSD.Translational psychiatry · 2022Article
- Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.Frontiers in molecular neuroscience · 2022Article
- A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.Molecular cytogenetics · 2021Article
- Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.Molecular genetics & genomic medicine · 2021Article
- Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.Medicine · 2021Article
- Language Impairment with a Partial Duplication ofMolecular syndromology · 2020Article
- Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.Molecular biology reports · 2020Article
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- Review
- Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency.Medical sciences (Basel, Switzerland) · 2019Article
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4 authors.
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Abstract
Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microduplication syndromes, but variants of unknown clinical significance (VOUS) and ambiguous CNVs can also be detected. An example of the last two are abnormalities in the DOCK8 gene. Conflicting interpretations of CNVs affecting DOCK8 can be found in the literature. Deletions were predicted to have a impact in carriers with variable clinical manifestations, where duplications have been proposed as benign variants. In our study, CNV screening was performed in a cohort involving 439 probands with suspected NDD. We identified known microdeletion/microduplication syndromes in 19% and VOUS CNVs in 8% of patients. Among these, three patients had a CNV encompassing the DOCK8 gene. Although diverse clinical presentations are noted in our three patients, comparison of their phenotypes revealed that abnormalities in cognition and communication, aggressive behaviour and mood swings are common to all of them. Therefore, a clinical relevance, in terms of influencing the psychiatric clinical picture of patients, is proposed for the CNVs disrupting the DOCK8 gene, regardless of whether it is a deletion or duplication.
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