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Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Mutations

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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Related Experiment Video

Updated: Mar 22, 2026

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

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

Published on: June 15, 2011

RELN Mutations in Autism Spectrum Disorder.

Dawn B Lammert¹, Brian W Howell¹

¹Department of Neuroscience and Physiology, SUNY Upstate Medical School Syracuse, NY, USA.

Frontiers in Cellular Neuroscience

|April 12, 2016

Summary

This summary is machine-generated.

Heterozygous mutations in the RELN gene are increasingly linked to autism spectrum disorders (ASD). While these mutations contribute to ASD, they likely require additional genetic or environmental factors for diagnosis.

Keywords:

Dab1 RELN autism autism spectrum disorder brain development cerebellum neocortex

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Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

The RELN gene encodes a secreted glycoprotein crucial for neuronal development and function.
Homozygous mutations in RELN cause lissencephaly with cerebellar hypoplasia (LCH), developmental delay, and epilepsy.
The role of heterozygous RELN mutations was previously unclear.

Purpose of the Study:

To investigate the association between heterozygous RELN mutations and autism spectrum disorders (ASD).
To identify the frequency and consequences of RELN mutations in ASD.
To understand the genetic basis of ASD related to RELN.

Main Methods:

Genetic analysis of the RELN gene in individuals with ASD.
Identification and characterization of RELN mutations, including de novo occurrences.
Mapping RELN to the AUTS1 locus on chromosome 7q22.

Main Results:

Over 40 distinct RELN mutations altering the protein sequence have been identified.
Four of these mutations are de novo.
Mutations predicted to inactivate signaling or affect the conserved RXR motif are particularly consequential.

Conclusions:

Growing evidence implicates heterozygous RELN mutations in ASD.
RELN mutations alone appear insufficient for ASD diagnosis.
Secondary genetic or environmental factors are likely necessary for ASD development in individuals with RELN mutations.