Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?

  title={Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?},
  author={Chelsea Lowther and Gregory Costain and Danielle A. Baribeau and Anne S. Bassett},
  journal={Current Psychiatry Reports},
Purpose of ReviewThe purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance.Recent FindingsGenomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal “hotspots” (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with… 
Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia
This study consecutively enrolled patients with schizophrenia spectrum disorder from a clinical setting and conducted genome-wide copy number variation (CNV) analysis using a chromosomal microarray platform to interpret the clinical significance of CNVs detected from patients.
The genomics of schizophrenia: Shortcomings and solutions
Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.
The iPSYCH population case cohort reveals broad disease risk for some of the studied CNVs and narrower risk for others, in addition to sex differential liability, which may be important for health care planning and clinical decision making, and thus the advancement of precision health care.
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
Dysmorphism, microcephaly, and epilepsy increase the probability of pathogenic CNV findings in ID and ASD patients, and the efficacy of CNV analysis is limited in these patients.
Translational Study of Copy Number Variations in Schizophrenia
The results suggest that a two-stage approach is cost-effective and reliable in achieving etiological diagnosis for some patients with schizophrenia and improving the understanding of schizophrenia genetics.
Consensus on potential biomarkers developed for use in clinical tests for schizophrenia
The characteristics of candidate diagnostic markers for schizophrenia, including genetic, inflammatory, neurotransmitter, peripheral protein, pharmacogenomic and gut microbiota markers are summarised and a novel laboratory process for diagnosing schizophrenia in clinical practice is proposed.
CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations
The association of the PAK2, ARHGAP11B, and PRODH genes with schizophrenia and/or bipolar disorder is supported and the first study of CNVs in EOS and EOB patients in Slovenia is conducted.
A large data resource of genomic copy number variation across neurodevelopmental disorders
This is the first genome-wide CNV analysis across autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, and obsessive-compulsive disorder at once, and it is demonstrated that CNVs impacting the same genes could potentially contribute to the etiology of multiple NDDs.
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
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.


Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era
This review critically appraises recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability, and uses 22q11.2 deletion syndrome as a model to chart the pathway for translating emerging genetic discoveries into clinical practice.
Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting
An outline of the lifetime neuropsychiatric phenotype of 22q11.2 deletion syndrome is provided that will be useful to clinicians involved in prenatal diagnosis and related genetic counselling.
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.
These initial genome-wide studies of CNVs provide replicated associations of schizophrenia with rare 1q21.1 and 15q13.3 deletions and point to a more general mutational mechanism involving rare CNVs that elevate risk for schizophrenia, especially more developmental forms of the disease.
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia
Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia
Progress in characterizing and predicting psychotic illness in 22q11.2DS supports this identifiable subpopulation as a molecular model with important implications for understanding the pathogenesis of schizophrenia in the general population and for development of potential novel therapies.
Adult neuropsychiatric expression and familial segregation of 2q13 duplications
  • G. Costain, A. C. Lionel, A. Bassett
  • Psychology, Medicine
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2014
Large rare 2q13 duplications appear to be associated with variable adult neuropsychiatric and other expression, and there are implications for other emerging genomic disorders where there is interest in lifelong expression.
Tourette syndrome is associated with recurrent exonic copy number variants
Rare, recurrent exonic copy number variants are associated in a subset of patients with Tourette syndrome, suggesting that these CNVs produce a continuum of neuropsychiatric disturbances that manifest in different ways depending on other genetic, environmental, or stochastic factors.
Advancing epilepsy genetics in the genomic era
The rapid pace of gene discovery in epilepsy, as facilitated by genomic technologies, is discussed, and several novel genes and potential therapies are highlighted.
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation
The findings suggest that rare CNVs of at least 15 kb in size may contribute to the etiology of OCD.
Identifying Potential Regions of Copy Number Variation for Bipolar Disorder
The goal of the present study is to perform a series of data filtering and analysis procedures using a DNA pooling strategy to identify potential CNV regions that are related to bipolar disorder and to reduce the chance of false-positive findings.