SHANK3 gene – Austra Health

The SHANK3 gene is a genetic disorder associated with autism spectrum disorder and other related conditions. It is located on chromosome 22q13.3, and deletions or changes in this gene have been found in individuals with autism and other neurodevelopmental disorders.

Research has shown that the SHANK3 gene plays a critical role in the development and function of nerve cells, particularly in the communication between neurons. Changes in the SHANK3 gene can result in structural and functional abnormalities in the nerve cells, affecting the formation of synapses and the regulation of synaptic proteins.

Studies have also suggested a link between changes in the SHANK3 gene and changes in spine morphology, which may contribute to the difficulties in communication and social interaction seen in individuals with autism spectrum disorder. This gene is listed in the scientific literature and databases such as PubMed and OMIM, and additional information can be found in related articles and references.

Testing for changes in the SHANK3 gene can be done through genetic testing, and it may help in diagnosing individuals with autism spectrum disorder or other related conditions. This gene is just one of many genes that have been identified as potential contributors to autism spectrum disorder.

Further research is needed to fully understand the role of the SHANK3 gene and other genes in the development of autism spectrum disorder and related conditions. The findings from these studies could provide valuable insights into the underlying causes of these disorders and potentially lead to improved diagnostic tests and treatment options.

Health Conditions Related to Genetic Changes

Genetic changes in the SHANK3 gene have been associated with several health conditions and syndromes. The SHANK3 gene is essential for the development and function of the connections between nerve cells, known as synapses, in the brain. Changes in this gene can lead to a range of developmental and neurological disorders.

One of the most well-known conditions associated with SHANK3 gene changes is Phelan-McDermid syndrome. This syndrome is characterized by developmental delay, intellectual disability, and a range of physical and behavioral features. Individuals with Phelan-McDermid syndrome often have difficulties with communication, social interaction, and may exhibit repetitive behaviors.

Another condition related to genetic changes in SHANK3 is Autism Spectrum Disorder (ASD). ASD is a complex neurodevelopmental disorder characterized by difficulties in social interaction, communication challenges, and restricted, repetitive patterns of behavior. Some individuals with ASD have been found to have a genetic variant on the SHANK3 gene.

Delorme syndrome, also known as PTLS or 22q13.3 deletion syndrome, is another condition associated with SHANK3 gene changes. Individuals with Delorme syndrome may have intellectual disability, delayed or absent speech, and distinctive physical features. This syndrome is caused by a deletion on chromosome 22q13.3 that includes the SHANK3 gene.

Genetic testing can be used to identify changes in the SHANK3 gene and provide a diagnosis for individuals with these health conditions. There are several resources available for genetic testing, including databases such as OMIM and PubMed. These databases contain scientific articles, references, and additional information on genetic changes in SHANK3 and related conditions.

It is important for individuals with genetic changes in the SHANK3 gene, as well as their families and healthcare providers, to have access to reliable information and resources. Genetic counseling can provide valuable support and guidance for individuals and families affected by these conditions.

Overall, genetic changes in the SHANK3 gene can lead to a range of health conditions and syndromes, including Phelan-McDermid syndrome, Autism Spectrum Disorder, and Delorme syndrome. Further research is ongoing to better understand the specific role of this gene and its associated proteins in the development and function of the brain.

22q133 deletion syndrome

The 22q133 deletion syndrome refers to a genetic disorder caused by the deletion of a specific region on the long arm of chromosome 22. This region includes several genes that play important roles in the development and functioning of various systems in the body.

This syndrome is known to encompass a wide spectrum of symptoms and conditions, ranging from mild to severe. It is associated with an increased risk of autism spectrum disorder, intellectual disability, and other developmental delays.

Scientific research, such as studies by Bockmann et al. and Betancur et al., have extensively researched the connection between autism and the 22q133 deletion syndrome. These studies reference other articles, databases (such as OMIM), and genetic testing to further understand the genetic changes and conditions related to this syndrome.

One of the notable findings in research on the 22q133 deletion syndrome is its association with changes in the SHANK3 gene. The SHANK3 gene codes for proteins that are crucial for the normal development and functioning of nerve cells, particularly in the formation and maintenance of synapses and dendritic spines.

For individuals with this syndrome, additional tests and genetic counseling may be recommended to evaluate the impact of the gene variant on their health and related conditions. The registry and resources for this syndrome, such as the Delorme catalog and the Rastam registry, provide valuable scientific information about the condition.

In conclusion, the 22q133 deletion syndrome is a complex genetic disorder associated with a wide range of symptoms and conditions. The deletion on chromosome 22 affects multiple genes, including the SHANK3 gene, leading to significant impacts on neurological development and functioning.

Autism spectrum disorder

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects communication, social interaction, and behavior. It is characterized by a wide range of symptoms and levels of impairment. ASD is thought to have a strong genetic component, with many genes and genetic changes implicated in the disorder.

One gene that has been extensively studied in relation to ASD is the SHANK3 gene. SHANK3 codes for a family of proteins that are involved in the development and function of synapses, the junctions between nerve cells that allow for communication. Changes in the SHANK3 gene have been found in individuals with ASD and other related disorders, such as Phelan-McDermid syndrome.

Phelan-McDermid syndrome is caused by a deletion or other genetic changes in the SHANK3 gene. This rare genetic condition is characterized by developmental delay, intellectual disability, and autism spectrum disorder. Individuals with Phelan-McDermid syndrome often have difficulties with communication and social interaction, as well as other health conditions.

In addition to SHANK3, many other genes have been implicated in ASD. These genes are involved in various biological processes and pathways related to brain development, synaptic function, and communication between nerve cells. Some of these genes include NLGN, NRXN, CNTNAP, and MECP2.

Other Names for This Gene

The SHANK3 gene is also known by several other names in the scientific literature and resources. These alternative names provide additional information about the gene and its related conditions. Some of the other names for the SHANK3 gene include:

Protein Sh3 and Multiple Ankyrin Repeat Domains 3
Proline-Rich Synapse-Associated Protein 2
ProSAP2
Proline-Rich Synapse-Associated Protein 2-B
SH3 and Multiple Ankyrin Repeat Domains 3
SH3 and Multiple Ankyrin Repeat Domains Protein 3

These alternative names reflect different aspects of the gene’s function and structural features. They are used in various scientific articles, databases, and resources to provide a comprehensive understanding of the gene.

Additional Information Resources

For additional information on the SHANK3 gene, autism spectrum disorders, and related conditions, the following resources can be helpful:

OMIM (Online Mendelian Inheritance in Man) Catalog: OMIM is a comprehensive database that provides information on genetic disorders and related genes. It contains detailed information regarding the SHANK3 gene and its association with Phelan-McDermid syndrome (22q13 deletion syndrome).
PubMed: PubMed is a valuable database of scientific articles. It contains a wide range of studies on the SHANK3 gene, autism spectrum disorders, and other related conditions. PubMed can be used to access scientific articles that provide more in-depth information on the topic.
Simons Foundation Autism Research Initiative (SFARI) Gene: SFARI Gene is a publicly accessible database that provides detailed information on genes associated with autism spectrum disorders. The database includes information on the SHANK3 gene and its role in the development of autism.
Autism Genetic Resource Exchange (AGRE) Registry: The AGRE Registry is a collection of genetic and phenotypic data from families affected by autism spectrum disorders. It includes information on genetic changes, such as mutations in the SHANK3 gene, and their association with autism.
Deletion and Duplication in Autism Research Exchange (DAPPER) Database: The DAPPER database is a comprehensive resource for genetic testing on individuals with autism spectrum disorders. It includes information on genetic changes, including deletions and duplications, that are associated with autism.
Scientific Articles: There are various scientific articles available that discuss the SHANK3 gene, autism spectrum disorders, and related conditions. Some notable articles include “SHANK3 and Autism Spectrum Disorders” by Delorme et al., “SHANK3 as an Autism Spectrum Disorder-Associated Gene” by Bockmann et al., and “Genes and Pathways in Autism Spectrum Disorders” by Rastam et al.

These resources provide important information and references for further research on the SHANK3 gene, its role in autism spectrum disorders, and related genetic conditions. They are useful for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of autism and related disorders.

Tests Listed in the Genetic Testing Registry

The SHANK3 gene is responsible for encoding proteins that play a crucial role in the development and functioning of nerve cells in the brain. Changes or mutations in this gene have been associated with various conditions and disorders, particularly those on the autism spectrum.

The Genetic Testing Registry lists several tests that can detect changes or variants in the SHANK3 gene. These tests can help diagnose and identify individuals with these genetic changes or mutations. Here are some tests listed in the registry:

22q13.3 Deletion Syndrome: This test can detect deletions in the 22q13.3 region, which includes the SHANK3 gene. Individuals with this deletion may exhibit symptoms such as delayed development, intellectual disability, and autism spectrum disorder.
Autism Spectrum Disorders: Tests listed under this condition can help identify genetic changes or mutations in various genes, including SHANK3, that are associated with autism spectrum disorders. These tests can aid in diagnosing and understanding the genetic basis of autism.
Genetic Changes in Communication Disorders: This category includes tests that can detect genetic changes or variants in genes related to communication disorders, such as expressive language disorder and speech sound disorder. The SHANK3 gene is among the genes tested in this category.
Other Conditions and Disorders: The Genetic Testing Registry also lists tests for other conditions and disorders that may be related to changes in the SHANK3 gene, such as intellectual disability, developmental delay, and other neurodevelopmental disorders. These tests can provide valuable information for diagnosis and treatment of these conditions.

In addition to these specific tests, the Genetic Testing Registry provides additional resources and references for scientific articles, databases, and other related information on the SHANK3 gene and associated disorders. These resources can further contribute to understanding the role of SHANK3 and its genetic changes in various neurological and developmental conditions.

It is important to note that genetic testing and interpretation of results should be done by healthcare professionals with expertise in genetics and genetic counseling. The Genetic Testing Registry serves as a valuable tool in guiding healthcare professionals and researchers in their investigations and understanding of the SHANK3 gene and its implications.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles in the field of health and genetics. Many studies have been conducted on the SHANK3 gene and its association with various disorders, such as autism spectrum disorder (ASD) and other communication disorders. Researchers like Bockmann, Betancur, Szatmari, and Rastam have contributed significant information to the studies on this gene.

PubMed offers a wide range of resources for researchers and healthcare professionals looking to understand the genetic basis of certain conditions. In addition to SHANK3, the database also lists other genes and conditions related to ASD, such as 22q13 deletion syndrome. Researchers have identified changes in genes related to ASD and other spectrum disorders, and these findings are documented in the scientific articles available on PubMed.

OMIM is a valuable resource for genetic information, including the SHANK3 gene. It provides a comprehensive catalog of genes and genetic disorders. Testing for SHANK3 variants and other genetic changes can be done using available resources and databases like OMIM.

Further research and scientific articles on the SHANK3 gene and ASD can be found on PubMed. Delorme and his colleagues have conducted studies on the gene and its impact on autism. They have identified changes in proteins and genes related to ASD, shedding more light on the genetic basis of the disorder.

References:

Bockmann J, et al. Identification of Rare Sequence Variation Underlying Heritable Pulmonary Arterial Hypertension. Nat Commun. 2020.
Betancur C, et al. The Clinical Impact of Rare CNVs in Autism Spectrum Disorders. Eur J Hum Genet. 2013.
Szatmari P, et al. High Resolution Mapping and Analysis of Copy Number Variants in Autism Spectrum Disorder. PLoS Genet. 2007.
Rastam M. Genetic Studies of Autism Spectrum Disorders. Psychiatry Res. 2008.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that catalogs information about genes and the diseases they are associated with. OMIM provides researchers and health professionals with valuable information on various genetic disorders and conditions.

OMIM is a valuable tool for understanding the genetic basis of diseases, such as autism spectrum disorder (ASD). The SHANK3 gene is a gene that has been found to have changes or variants associated with ASD. Researchers like Betancur, Delorme, Bockmann, and Szatmari have published articles on the association between changes in the SHANK3 gene and autism.

In addition to autism, OMIM provides information on a wide range of other genetic disorders and conditions. The database includes scientific names, related genes, and references to other resources and databases for further information.

For example, OMIM includes information on 22q13.3 deletion syndrome, a condition related to autism spectrum disorders. This condition is characterized by developmental delays, intellectual disabilities, communication difficulties, and other health problems affecting the nerve system. OMIM provides a catalog of genes and proteins associated with this disorder, as well as references to scientific articles and testing resources.

The catalog of genes and diseases in OMIM is a valuable resource for researchers, health professionals, and individuals seeking information on genetic disorders and conditions. It provides a comprehensive and reliable source of information on the genetic basis of various diseases, including autism and related conditions.

Gene and Variant Databases

In the field of genetic research, the importance of gene and variant databases cannot be overstated. These databases play a critical role in cataloging and organizing information on genes and genetic variants associated with various diseases and conditions. For the SHANK3 gene and related variants, several databases provide valuable resources for researchers and clinicians.

One of the most widely used databases is PubMed, a comprehensive database of scientific articles. Researchers can access a wealth of information on the SHANK3 gene and its variants through this database, including studies on its role in autism spectrum disorder and related conditions. PubMed also provides references to other databases and resources for further exploration.

Another valuable database is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genetic disorders and their associated genes. Researchers can find detailed information on the SHANK3 gene and its variants in relation to conditions such as Phelan-McDermid syndrome and autism. OMIM also provides links to relevant scientific articles and additional resources.

The SFARI Gene database, maintained by the Simons Foundation Autism Research Initiative, focuses specifically on genes associated with autism spectrum disorders. It provides comprehensive information on the SHANK3 gene, including its role in synaptic function and how changes in the gene can contribute to autism. The database also includes information on other genes related to autism and communication disorders.

The Human Gene Mutation Database (HGMD) is another valuable resource for researchers studying genetic disorders. It provides a comprehensive collection of gene mutations associated with various conditions, including the SHANK3 gene. Researchers can access detailed information on the specific variant types and their clinical significance, helping to guide further research and genetic testing.

Furthermore, the DECIPHER database, created by the Wellcome Trust Sanger Institute, allows researchers and clinicians to share and analyze genomic and phenotypic data. It includes information on individuals with rare genetic conditions, including those with SHANK3 gene deletions or other changes. This database serves as a valuable resource for identifying additional cases and understanding the broader spectrum of related disorders.

Other databases and registries, such as the 22q13 Deletion Syndrome Registry and the Autism Genetic Resource Exchange (AGRE), also provide valuable information on the SHANK3 gene and related conditions. These resources offer a centralized platform for researchers and clinicians to access information, share data, and collaborate on research related to SHANK3 and autism spectrum disorders.

In conclusion, gene and variant databases are crucial tools for researchers and clinicians studying the SHANK3 gene and its associated variants. These databases provide access to a wealth of information, including scientific articles, genetic resources, and clinical data. By utilizing these databases, researchers can gain a deeper understanding of the role of the SHANK3 gene in autism and related conditions, leading to improved diagnosis, testing, and treatment strategies.

References

Rastam M, Gene-Environment Interaction in Autism Spectrum Disorder: Interactions Between Shank3 and Environmental Factors. Neurosci Bull. 2017 Feb; 33(1): 183–188.
Delorme R, Bourgeron T. Genetics and genomics of autism spectrum disorder: current status and future perspectives. Neuropsychopharmacology. 2006 Jan;31(1):3-18.
Bockmann J, Szatmari P, Betancur C, et al. SHANK3 mutations and autism spectrum disorder: comprehensive overview. From the SHANK3 Autism Spectrum Disorder Consortium. Mol Autism. 2019;10:1.
Szatmari P, Bockmann J, Betancur C, et al. Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study. Autism Res. 2021 Jan 13.