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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

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Published on: October 17, 2025

Recurrent 16p11.2 microdeletions in autism.

Ravinesh A Kumar¹, Samer KaraMohamed, Jyotsna Sudi

¹Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

Human Molecular Genetics

|December 25, 2007

Summary

Researchers identified a recurrent 16p11.2 microdeletion in children with autism spectrum disorder. This genetic finding represents a common genomic disorder linked to autism, impacting approximately 0.6% of cases studied.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Published on: June 15, 2011

Area of Science:

Genetics
Neurodevelopmental Disorders
Genomic Medicine

Background:

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a significant genetic basis.
Identifying specific genetic factors, or autism susceptibility loci, remains a critical challenge in ASD research.
Submicroscopic chromosomal rearrangements are increasingly recognized as contributors to neurodevelopmental disorders.

Purpose of the Study:

To identify submicroscopic chromosomal rearrangements associated with autism using array comparative genomic hybridization (aCGH).
To determine the frequency and characteristics of a newly identified 16p11.2 microdeletion in autism.
To analyze the breakpoint regions, associated genes, and phenotypic features of the 16p11.2 microdeletion in individuals with autism.

Main Methods:

Utilized a 19K whole-genome tiling path bacterial artificial chromosome microarray for aCGH in 180 autism probands and 372 controls.
Screened additional cohorts (532 probands, 465 controls) using quantitative PCR to assess the frequency of the 16p11.2 microdeletion.
Confirmed deletions via fluorescence in situ hybridization, microsatellite analyses, and high-density oligonucleotide microarrays; performed bioinformatic and phenotypic analyses.

Main Results:

Discovered a recurrent ~500-kb 16p11.2 microdeletion in two autism probands, absent in controls.
Established a combined frequency of 0.6% for the 16p11.2 microdeletion in autism (4/712 autism cases vs. 0/837 controls, P = 0.044).
Mapped deletion breakpoints to segmental duplications and identified 12 genes within the deleted region, with no distinct phenotypic features differentiating affected individuals.

Conclusions:

The de novo 16p11.2 microdeletion is a recurrent genomic disorder associated with autism spectrum disorder.
This microdeletion represents one of the more common recurrent genomic alterations identified in autism to date.
Further research into the 16p11.2 microdeletion's role in neurodevelopment is warranted.