Related Experiment Video
Updated: Jul 29, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Evidence supporting WNT2 as an autism susceptibility gene
T H Wassink1, J Piven, V J Vieland
1Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA. thomas-wassink@uiowa.edu
American Journal of Medical Genetics
|July 13, 2001
Summary
Researchers investigated the WNT2 gene as a potential cause of autism spectrum disorder (ASD). Rare mutations in WNT2 may increase autism susceptibility, while common variants might also contribute to the disorder.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- The WNT signaling pathway is crucial for central nervous system development.
- Genetic linkage studies have implicated chromosome region 7q31-33 in autism susceptibility.
- Mouse models with disrupted WNT pathway components display social interaction deficits.
Purpose of the Study:
- To evaluate WNT2 as a candidate gene for autism spectrum disorder (ASD).
- To identify mutations and genetic variations in WNT2 associated with ASD.
- To explore the role of WNT2 in the etiology of autism.
Main Methods:
- Screening of the WNT2 coding sequence for mutations in autistic individuals.
- Linkage disequilibrium analysis of a WNT2 3'UTR single nucleotide polymorphism (SNP) in autism-affected families.
- WNT2 gene expression analysis in human brain tissue.
Main Results:
- Identified two families with nonconservative WNT2 coding variants segregating with autism.
- Detected significant linkage disequilibrium between a WNT2 3'UTR SNP and ASD, particularly in families with severe language abnormalities.
- Confirmed WNT2 expression in the human thalamus.
Conclusions:
- WNT2 is a strong candidate gene for autism spectrum disorder.
- Rare WNT2 mutations may confer significant autism susceptibility.
- Common WNT2 alleles might also contribute to autism risk, warranting further investigation.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
02:54Canonical Wnt Signaling Pathway
The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which results in tumor...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:41Non-Canonical Wnt Signaling Pathways
Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:19Autism 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.
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.