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

Chelsea Lowther^{1

2}, Gregory Costain³, Danielle A Baribeau⁴, Anne S Bassett^{5

6

7

8}

Affiliations

¹ Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada.
² Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
³ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Medical Genetics Residency Training Program, University of Toronto, Toronto, ON, Canada.
⁴ Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
⁵ Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada. anne.bassett@utoronto.ca.
⁶ Institute of Medical Science, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.
⁷ Department of Psychiatry, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.
⁸ Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome and Toronto General Research Institute, University Health Network, and Campbell Family Mental Health Research Institute, Toronto, ON, Canada. anne.bassett@utoronto.ca.

PMID: 28929285
DOI: 10.1007/s11920-017-0831-5

Review

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

Chelsea Lowther et al. Curr Psychiatry Rep. 2017.

. 2017 Sep 20;19(11):82.

doi: 10.1007/s11920-017-0831-5.

Authors

Chelsea Lowther^{1

2}, Gregory Costain³, Danielle A Baribeau⁴, Anne S Bassett^{5

6

7

8}

Affiliations

¹ Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada.
² Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
³ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Medical Genetics Residency Training Program, University of Toronto, Toronto, ON, Canada.
⁴ Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
⁵ Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada. anne.bassett@utoronto.ca.
⁶ Institute of Medical Science, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.
⁷ Department of Psychiatry, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.
⁸ Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome and Toronto General Research Institute, University Health Network, and Campbell Family Mental Health Research Institute, Toronto, ON, Canada. anne.bassett@utoronto.ca.

PMID: 28929285
DOI: 10.1007/s11920-017-0831-5

Abstract

Purpose of review: The 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 findings: Genomic 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 variable cognitive and other neuropsychiatric expression. Although individually rare, genomic disorders collectively account for a significant minority of intellectual disability, autism spectrum disorder, and schizophrenia. Genome-wide chromosomal microarray analysis is capable of detecting all genomic disorders in a single test, offering the first opportunity for routine clinical genetic testing in psychiatric practice.

Keywords: ADHD; Autism; CNV; Copy number variation; Genomic disorder; Schizophrenia.

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References

1. Eur J Hum Genet. 2015 Jan;23(1):4-7 - PubMed
1. Nat Genet. 2006 Sep;38(9):1038-42 - PubMed
1. Am J Hum Genet. 2014 May 1;94(5):677-94 - PubMed
1. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):367-380 - PubMed
1. Am J Psychiatry. 2010 Aug;167(8):899-914 - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

References

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MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials