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7q11.23 deletion and duplication.

Lucy R Osborne1, Carolyn B Mervis1

  • 1Departments of Medicine and Molecular Genetics, University of Toronto, 661 University Avenue, Suite 1500, MaRS Centre, West Tower, Toronto, ON M5G 1M1 Canada; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, United States.

Current Opinion in Genetics & Development
|February 20, 2021
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Summary
This summary is machine-generated.

Copy number variation (CNV) at 7q11.23 influences distinct disorders affecting cognition and behavior. Research using genomics and mouse models offers promising strategies to understand and potentially correct these complex genetic conditions.

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Area of Science:

  • Genetics and Genomics
  • Neuroscience
  • Developmental Biology

Background:

  • Copy number variation (CNV) at the 7q11.23 chromosomal region is linked to a spectrum of neurodevelopmental disorders.
  • These disorders present with overlapping and contrasting phenotypic features, impacting cognitive abilities, psychopathology, and behavior.
  • Understanding the molecular basis of these phenotypes is crucial for developing targeted interventions.

Purpose of the Study:

  • To investigate the molecular underpinnings of cognitive disabilities and behavioral alterations associated with 7q11.23 CNV.
  • To identify candidate genes within the 7q11.23 region contributing to the observed phenotypes.
  • To explore potential therapeutic strategies for correcting gene expression and ameliorating associated pathophysiology.

Main Methods:

  • Analysis of individuals with atypical 7q11.23 CNVs to narrow down candidate genes.
  • Generation and study of mouse models to elucidate gene function in vivo.
  • Application of high-throughput genomics techniques, including transcriptome and methylome interrogation.
  • Initial development of strategies to modulate gene transcription levels.

Main Results:

  • Identification of specific genes within the 7q11.23 region associated with distinct phenotypic outcomes.
  • Mouse models have provided valuable insights into the functional roles of these genes.
  • Genomic analyses have revealed molecular signatures associated with the 7q11.23 CNV.
  • Preliminary correction strategies show promise in addressing gene transcription and phenotypic abnormalities.

Conclusions:

  • The 7q11.23 CNV serves as a valuable model for understanding the genetic basis of complex human cognitive and social behaviors.
  • Continued research integrating genomic data, model systems, and therapeutic interventions holds promise for advancing treatment strategies.
  • Targeting gene transcription levels offers a potential avenue for correcting pathophysiology and improving cognitive and behavioral phenotypes.