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Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia.

Chia-Hsiang Chen1,2, Min-Chih Cheng3, Tsung-Ming Hu3

  • 1Department of Psychiatry, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Frontiers in Genetics
|October 18, 2021
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray analysis (CMA) shows promise as a first-tier genetic test for schizophrenia. This genetic testing identified pathogenic copy number variations (CNVs) in 6.7% of patients, aiding diagnosis and understanding of the disorder.

Keywords:
chromosome microarray analysiscopy number variationgenetic testrare mutationschizophrenia

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Area of Science:

  • Genetics
  • Psychiatry
  • Molecular Biology

Background:

  • Schizophrenia is a complex genetic disorder with limited clinical genetic testing options.
  • Chromosomal microarray analysis (CMA) is a standard genetic test for developmental disorders.
  • There is a need for improved genetic diagnostic tools for schizophrenia spectrum disorders.

Purpose of the Study:

  • To evaluate the utility of chromosomal microarray analysis (CMA) as a first-tier genetic test for schizophrenia.
  • To identify copy number variations (CNVs) in patients with schizophrenia spectrum disorder.
  • To assess the diagnostic yield and clinical significance of detected CNVs.

Main Methods:

  • Genome-wide copy number variation (CNV) analysis was performed using a chromosomal microarray platform.
  • Sixty patients with schizophrenia spectrum disorder were consecutively enrolled.
  • CNV interpretation followed the 2020 ACMG/ClinGen technical standards.

Main Results:

  • Four patients (6.7%) had clinically significant CNVs: three pathogenic and one likely pathogenic.
  • Thirteen additional CNVs of uncertain clinical significance were detected in nine patients.
  • The detection rate of pathogenic/likely pathogenic CNVs was comparable to existing literature.

Conclusions:

  • Chromosomal microarray analysis (CMA) is a valuable genetic tool for schizophrenia spectrum disorders.
  • CMA can aid in molecular genetic diagnosis, genetic counseling, and clinical management.
  • This genetic testing approach enhances understanding of schizophrenia's pathogenesis.