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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Santhosh Girirajan1, Jill A Rosenfeld, Gregory M Cooper

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.

Nature Genetics
|February 16, 2010
PubMed
Summary

A specific microdeletion at 16p12.1 is linked to childhood developmental delay. This genetic finding suggests a two-hit model where additional genetic variations can worsen neurodevelopmental outcomes.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • Childhood developmental delay is a complex condition with diverse genetic underpinnings.
  • Recurrent microdeletions are increasingly recognized as significant contributors to neurodevelopmental disorders.

Purpose of the Study:

  • To identify and characterize recurrent microdeletions associated with childhood developmental delay.
  • To investigate the inheritance patterns and clinical penetrance of the 16p12.1 microdeletion.
  • To explore the role of additional genetic variants in modulating the phenotype of the 16p12.1 microdeletion.

Main Methods:

  • Case-control study design utilizing large genetic datasets.
  • Statistical analysis including odds ratios and p-values to assess association.
  • Replication study in an independent cohort to confirm findings.
  • Analysis of inheritance patterns and co-occurring copy-number variants.

Main Results:

  • A recurrent 520-kb 16p12.1 microdeletion was significantly associated with developmental delay (OR = 7.2, P = 0.0009).
  • Replication confirmed the association (OR = 2.5, P = 0.028).
  • Carrier parents often exhibited neuropsychiatric phenotypes (OR = 6, P = 0.037).
  • Individuals with the microdeletion were more likely to have additional large copy-number variants (OR = 6.6, P = 5.7 x 10(-5)).

Conclusions:

  • The 16p12.1 microdeletion is a risk factor for developmental delay and neuropsychiatric conditions.
  • A two-hit model is proposed, where the microdeletion predisposes to and exacerbates neurodevelopmental phenotypes.
  • This model may be broadly applicable to other microdeletions and neuropsychiatric diseases.