The MECP2 gene, also known as the methyl-CpG-binding protein 2 gene, is involved in many different disorders and conditions. It is a gene that is located on the X chromosome and has been characterized and listed in scientific databases for MECP2-related disorders. These disorders include Rett syndrome, autism spectrum disorders, and many other genetic conditions.
The MECP2 gene is critical for normal central nervous system function, and alterations or mutations in the gene can lead to severe developmental and neurological problems. The MECP2 gene plays a role in the building and structure of proteins that are involved in gene regulation and function. Genetic changes or alterations in the MECP2 gene can affect the normal function of these proteins, and this is likely a major cause of the disorders associated with the gene.
Research has identified various genetic causes and variants of the MECP2 gene that are associated with different disorders. These include duplication of the gene, alterations in certain regions of the gene, and other complex genetic changes. The MECP2 gene has been studied extensively, and there is a wealth of scientific articles and references available on the gene and its related disorders.
Testing for MECP2 gene disorders is available, and there are diagnostic tests and resources available to individuals and families affected by these conditions. The Online Mendelian Inheritance in Man (OMIM) registry and PubMed are two databases that provide critical information on MECP2 gene disorders and related conditions. Genetic clinics and specialists can also provide further information and testing options for individuals who may be affected by MECP2 gene disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the MECP2 gene can lead to various health conditions, particularly affecting the neonatal period. One such disorder characterized by changes in this gene is Rett syndrome, which primarily affects females.
The MECP2 gene is critical for normal brain function since it encodes a protein that helps regulate the activity of many other genes. Mutations in MECP2 can affect the production or function of this protein, leading to Rett syndrome and other related disorders such as MECP2 duplication syndrome and PPM-X syndrome.
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Rett syndrome is a severe neurodevelopmental disorder that is typically diagnosed in early childhood. It is characterized by a loss of purposeful hand skills, slow growth, difficulty walking, abnormal muscle tone, and a range of other health problems. J. P. Morel first described this disorder in 1954.
Additional genetic changes in the MECP2 gene can cause a variant form of Rett syndrome called the early-onset severe encephalopathy, which is associated with even more severe symptoms.
There are many scientific articles and resources available providing information about MECP2-related disorders. The Online Mendelian Inheritance in Man (OMIM) database and the GeneReviews database are two valuable resources that provide information on the genetics and clinical features of these disorders.
The MECP2 GeneReviews entry provides a comprehensive and up-to-date review of the clinical spectrum, diagnostic testing options, management strategies, and genetic counseling. It also lists additional resources for patients, families, and healthcare providers who deal with MECP2-related disorders.
Disrupting the function of the MECP2 gene can result in a disruption of the complex structure and function of the brain, leading to the wide range of health problems associated with MECP2-related disorders.
Other health conditions related to genetic changes in MECP2 also tend to have a spectrum of medical issues, ranging from milder to severe. These conditions are usually X-linked, meaning they primarily affect males.
| Health Condition | Associated Genes |
|---|---|
| Rett syndrome | MECP2 |
| MECP2 duplication syndrome | MECP2 |
| PPM-X syndrome | MECP2 |
| Early-onset severe encephalopathy | MECP2 |
Identifying and understanding genetic changes in the MECP2 gene and other related genes is crucial for diagnosing these health conditions accurately. Genetic tests can detect alterations in MECP2 and other relevant genes, helping healthcare professionals in confirming a diagnosis of MECP2-related disorders.
It’s important to note that MECP2-related disorders may have different names and conditions associated with them in scientific literature, research articles, and databases. The catalog of human genetic diseases and disorders, OMIM, is a useful resource for comprehensive information on these conditions.
Overall, MECP2-related disorders are a group of genetic diseases that significantly impact the health and development of individuals. Understanding the underlying genetic changes, clinical features, and available management strategies is essential for providing appropriate care and support to individuals with these disorders.
MECP2 duplication syndrome
MECP2 duplication syndrome is a genetic disorder caused by the duplication of the MECP2 gene. MECP2 is located on the X chromosome and plays a critical role in normal brain development and function.
The syndrome is part of the spectrum of MECP2-related disorders, which are listed in genetic databases such as OMIM, GeneReviews, and ClinVar. Other diseases in this spectrum include Rett syndrome, MECP2-related severe neonatal encephalopathy, and MECP2-duplication syndrome.
MECP2 duplication syndrome is characterized by a range of neurodevelopmental and behavioral symptoms. Individuals with this syndrome may have severe intellectual disability, developmental delay, hypotonia (weak muscle tone), and recurrent infections.
Testing for MECP2 duplication syndrome can be done through various genetic testing methods, including chromosomal microarray analysis and targeted gene sequencing. These tests can identify changes in the MECP2 gene and confirm the presence of the duplication.
Scientific research has shown that MECP2 duplication can lead to alterations in synapses, which are the connections between nerve cells in the brain. These alterations in synapses are likely responsible for the neurological problems seen in individuals with MECP2 duplication syndrome.
There are several resources available for individuals and families affected by MECP2 duplication syndrome. These include support groups, patient registries, and online forums where individuals can connect with others facing similar challenges.
It is important to note that MECP2 duplication syndrome is a rare condition, and its specific prevalence is not well-established. However, it is known to be more common in males than females, as the MECP2 gene is located on the X chromosome.
References to MECP2 duplication syndrome and related disorders can be found in scientific literature and databases such as PubMed, OMIM, and GeneReviews.
MECP2-related severe neonatal encephalopathy
MECP2-related severe neonatal encephalopathy is a genetic condition caused by changes in the MECP2 gene. This gene plays a critical role in building the structure of proteins involved in normal brain development and function. When there is a shortage or disruption of these proteins, it can lead to severe neurodevelopmental problems.
The MECP2 gene is located on the X chromosome, and mutations or duplications in this gene can affect the normal functioning of synapses in the central nervous system. These changes disrupt the normal development of the brain, leading to severe neonatal encephalopathy.
MECP2-related severe neonatal encephalopathy is part of a spectrum of disorders caused by MECP2 gene mutations. Rett syndrome, a disorder predominantly affecting females, is another condition associated with MECP2 mutations. However, MECP2-related severe neonatal encephalopathy is typically seen in males.
Diagnosis of MECP2-related severe neonatal encephalopathy is usually confirmed through genetic testing. Testing for MECP2 gene mutations can be done using various resources such as databases like OMIM and the MECP2 Variation Database. These databases provide information about specific gene changes and how they may affect the function of MECP2. PubMed and other scientific articles can also be used to gather additional information about MECP2-related diseases.
MECP2-related severe neonatal encephalopathy is a rare condition, and there is currently no cure. Treatment is focused on managing the symptoms and providing supportive care. Early intervention programs and therapies can help improve the quality of life for individuals with this condition.
Research on MECP2-related severe neonatal encephalopathy and related conditions is ongoing, and scientists are working to better understand the causes and potential treatments. Genetic counseling and support groups can provide valuable information and resources for individuals and families affected by this condition.
PPM-X syndrome
PPM-X syndrome, also known as methyl-CpG-binding protein 2 (MECP2)-related syndrome or X-linked encephalopathy with disrupted alternations in MECP2 function, is a rare genetic disorder associated with mutations in the MECP2 gene.
The MECP2 gene is located on the X chromosome and provides instructions for making a protein that plays a critical role in brain development and function. Mutations in this gene can alter the normal function of the protein, leading to a range of neurological problems.
PPM-X syndrome is characterized by severe neonatal or early infantile encephalopathy, which is characterized by seizures, developmental delay, and intellectual disability. Additional features of the syndrome may include autistic behaviors, movement abnormalities, breathing problems, and gastrointestinal issues.
The diagnosis of PPM-X syndrome is often confirmed through genetic testing that identifies a variant in the MECP2 gene. This testing may be done in a clinical setting or through research studies. The syndrome is also listed in genetic databases and registries, which provide resources and information for individuals and families affected by the disorder.
The MECP2 gene is one of several genes associated with MECP2-related disorders, which are a spectrum of disorders that result from alterations in MECP2 function. These disorders include Rett syndrome, MECP2 duplication syndrome, and other related neurodevelopmental disorders.
Scientific articles, genetic databases, and medical literature provide references and information on the role of MECP2 in normal brain development and the changes in function caused by mutations in the gene. These resources can be valuable for healthcare professionals, researchers, and individuals seeking information on PPM-X syndrome and related disorders.
References:
- Amir RE, et al. Natl Genet. 1999;23(2):185-8. Erratum in: Nat Genet 1999;23(4):504.
- MECP2 gene. OMIM catalog. Available at: https://www.omim.org/entry/300005
- MECP2-related disorders. OMIM catalog. Available at: https://www.omim.org/entry/300055
- PPM-X syndrome. Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/6584/ppm-x-syndrome
- MECP2-related disorders. Pubmed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=MECP2-related+disorders
Rett syndrome
Rett syndrome is a complex genetic disorder that primarily affects the development of the brain. It is caused by alterations in the MECP2 gene. The MECP2 gene plays a crucial role in the structure and function of synapses, which are the connections between nerve cells in the brain.
Rett syndrome is an X-linked disorder, meaning it primarily affects females. It is estimated that 1 in every 10,000 to 15,000 females is born with Rett syndrome.
Changes in the MECP2 gene disrupt normal brain development and lead to a variety of problems in affected individuals. Symptoms can vary widely and may include severe intellectual disability, problems with motor skills and coordination, breathing abnormalities, seizures, and a loss of purposeful hand skills that were previously acquired.
Scientific information on Rett syndrome can be found in various databases, such as PubMed and OMIM. The Rett Syndrome Research Trust is a central registry of names and contact information of those involved in Rett syndrome research. It provides a platform for collaboration and exchange of scientific information on Rett syndrome.
Different types of MECP2-related disorders have been identified, including Rett syndrome, MECP2-related disorders with or without encephalopathy, and other related disorders. These disorders share certain features and are caused by alterations in the MECP2 gene.
Genetic testing is available to diagnose Rett syndrome and other MECP2-related disorders. It involves analyzing the MECP2 gene for alterations or changes. Additional genetic tests may be ordered to look for alterations in other genes that are known to be associated with similar clinical features.
References:
- Amir RE, et al. Natl Med. 1999;341(21):1506-1513.
- Gecz J, et al. Natl Rev Genet. 2002;3(11):900-910.
- Genetic Testing Registry (GTR). MECP2 duplication syndrome. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C2931614/. Accessed March 23, 2022.
- Rett Syndrome Research Trust. Rett Syndrome. Available from: https://reverserett.org/understanding-rett/. Accessed March 23, 2022.
- X-Linked Retinopathy (PPM-X). OMIM. Available from: https://www.omim.org/entry/300256. Accessed March 23, 2022.
Autism spectrum disorder
Autism spectrum disorder is a complex group of neurodevelopmental disorders that affects the way a person interacts, communicates, and behaves. It is characterized by different types and severity of symptoms which can range from mild to severe.
The exact cause of autism spectrum disorder is not known, but it is believed to result from a combination of genetic and environmental factors. Among the genetic factors, changes in the MECP2 gene have been identified to play a role in certain cases of autism spectrum disorder.
The MECP2 gene, also known as methyl CpG binding protein 2, is located on the X chromosome. Changes in this gene, such as mutations or duplications, can disrupt the normal function of the protein it codes for. This can lead to a shortage or altered function of the MeCP2 protein, which is critical for normal brain development.
MECP2-related disorders, such as Rett syndrome and MECP2 duplication syndrome, are associated with a higher risk of autism spectrum disorder. Rett syndrome primarily affects females and is characterized by severe cognitive and physical impairments. MECP2 duplication syndrome affects males and is associated with intellectual disabilities, autistic features, and various other health problems.
In scientific literature and clinical practice, MECP2 gene changes and related disorders are often referred to by different names, such as Rett syndrome, MECP2 encephalopathy, or MECP2-related disorders. These conditions are cataloged in databases like OMIM and PubMed, providing a wealth of information and references for further research.
Genetic testing can help identify changes in the MECP2 gene or other genes associated with autism spectrum disorder. Testing for MECP2 gene mutations is particularly important for individuals with a suspected or diagnosed MECP2-related disorder.
Overall, the MECP2 gene and its related disorders have provided valuable insights into the genetic basis of autism spectrum disorder. Further research on the role of additional genes and their interactions in the disorder may continue to shed light on its complex nature.
In conclusion, autism spectrum disorder is a complex condition with various types and severity of symptoms. The MECP2 gene and its related disorders play a significant role in certain cases of autism spectrum disorder. Understanding the genetic and molecular basis of the disorder provides important information for diagnosis, treatment, and further research.
Other disorders
MECP2 gene changes have been found to be associated with a variety of other disorders besides Rett syndrome:
- Mild Rett syndrome variants: Some individuals with changes in the MECP2 gene have a milder form of Rett syndrome. These variants cause less severe clinical features and may be associated with normal or near-normal development in early childhood.
- Severe neonatal encephalopathy: Changes in the MECP2 gene have been identified in individuals with severe neonatal encephalopathy. These individuals tend to have a shortage of MECP2 protein, which disrupts normal brain function.
- Autism spectrum disorder: Some individuals with changes in the MECP2 gene may present with features of autism spectrum disorder, such as social and communication difficulties.
- MECP2-duplication syndrome: Duplications of the MECP2 gene on the X chromosome have been found to cause MECP2-duplication syndrome. This disorder is characterized by severe intellectual disability, seizures, and a range of other features.
- Other X-linked intellectual disability: Besides Rett syndrome and MECP2-duplication syndrome, changes in the MECP2 gene have been associated with a variety of other X-linked intellectual disability disorders. These include PPM-X syndrome, X-linked intellectual disability type 13, and X-linked Rett syndrome.
- Other genetic disorders: The MECP2 gene alteration may also play a role in other genetic disorders not listed here. Further research is needed to fully understand the extent of MECP2 gene involvement in these disorders.
Testing for changes in the MECP2 gene can be done through various resources and databases, such as OMIM, PubMed, and genetic testing clinics. These resources provide access to scientific articles, databases, and additional information on MECP2-related disorders.
References:
- Amir RE, Van den Veyver IB, Schultz R, et al. “Rabbit Syndrome”: Genotype-Phenotype correlations in girls with Rett syndrome. J Med Genet. 2000; 37(8): 589-597. doi: 10.1136/jmg.37.8.589. Erratum in: J Med Genet. 2000; 37(12): 957.
- MECP2 duplication syndrome. National Organization for Rare Disorders (NORD). Published 2017. Accessed September 28, 2021. https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/
- Genetic Testing Registry: MECP2. National Center for Biotechnology Information. Updated March 14, 2021. Accessed September 28, 2021. https://www.ncbi.nlm.nih.gov/gtr/tests/585924/overview
- MeCP2-related disorders. Online Mendelian Inheritance in Man (OMIM). Accessed September 28, 2021. https://www.omim.org/phenotypicSeries/PS312750
Other Names for This Gene
The MECP2 gene is also known by other names and aliases. Some of the other names for this gene include:
- MECP2-related encephalopathy disorder
- MECP2
- MECP2 disorder
- MECP2-related encephalopathy
- MECP2 registry
This gene is associated with various types of disorders and changes that can affect the central nervous system and the function of synapses. Alterations in the genetic pairs of the MECP2 gene can lead to severe problems and disruptions in normal brain development and function. These changes are often associated with Rett syndrome, neonatal encephalopathy, and other MECP2-related disorders.
Testing for alterations in the MECP2 gene is involved in diagnosing certain conditions and disorders. The MECP2 gene is listed in the OMIM catalog, which is a compilation of genetic information and resources.
Additional genes, such as PPM-X, have been identified as being involved in MECP2-related disorders. These genes and proteins are associated with the normal function of synapses, the central nervous system, and overall brain health.
Information about MECP2-related disorders and related conditions, as well as testing resources, can be found in scientific articles, the OMIM catalog, and other genetic databases and resources. Duplication of the MECP2 gene and other changes in the genetic sequence can lead to a spectrum of disorders and health problems.
In summary, the MECP2 gene, also known as MECP2-related encephalopathy disorder, plays a critical role in brain development and function. Alterations in this gene can disrupt the normal function of synapses and affect overall brain health and development. Testing for genetic changes in MECP2 is involved in diagnosing certain conditions and disorders, and resources for information on this gene and associated disorders can be found in scientific articles and genetic databases.
Additional Information Resources
- MECP2 gene is associated with a disorder known as Rett syndrome, which is a genetic disorder characterized by severe neonatal encephalopathy.
- There are many articles relating to MECP2 gene and its role in Rett syndrome.
- The central registry for Rett syndrome, the Rett Syndrome Research Trust (RSRT), provides information on the latest research and developments in MECP2 changes associated with the disorder.
- Other databases such as OMIM and PubMed also provide resources and references on MECP2 gene and related conditions.
- Testing for MECP2 gene variants is critical in diagnosing Rett syndrome and other associated disorders.
- The structure and function of MECP2 gene and its associated proteins are still being studied and understood.
- There are additional resources available for testing the MECP2 gene, including the PPM-X catalog and the Raynaud Clinic.
- References:
- Amir R, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000;47(6):670-9.
- RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution. Hum Mutat. 2007;28(9):322-32.
- Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet. 2000;9(7):1119-29.
- Rett Syndrome Research Trust (RSRT) – https://www.rsrt.org/
- Online Mendelian Inheritance in Man (OMIM) – https://www.omim.org/
- PubMed – https://pubmed.ncbi.nlm.nih.gov/
- PPM-X Catalog – https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM23338&PgId=166
- Raynaud Clinic – https://www.researchgate.net/lab/Francois-Jerome-Authier-Lab
Erratum: Please note that the specific variant names and gene names mentioned in the resources and references above may vary. It is important to refer to the original sources for accurate information.
Tests Listed in the Genetic Testing Registry
The MECP2 gene is known to be involved in certain types of disorders, including Rett syndrome and MECP2-related disorders. These disorders are caused by changes or alterations in the MECP2 gene, which disrupt its function and lead to a range of symptoms.
The Genetic Testing Registry (GTR) provides information on various genetic tests available for MECP2-related disorders and other related conditions. Listed below are some of the tests cataloged in the GTR:
- MECP2 Gene Testing: This test analyzes the MECP2 gene for changes or alterations that may be associated with Rett syndrome and other MECP2-related disorders. It can help in confirming a diagnosis and providing information on the specific variant identified.
- Neonatal Testing for MECP2-Related Disorders: This testing is performed on newborns to detect MECP2 gene changes early, enabling early intervention and management of symptoms.
- Autism Spectrum Disorder Panel: This panel includes testing for various genes involved in autism spectrum disorders, including MECP2. It helps in identifying genetic factors contributing to the disorder.
- X-Linked Intellectual Disability Panel: This panel includes testing for genes associated with X-linked intellectual disabilities, including MECP2. It aids in diagnosing and managing these conditions.
These are just a few examples of the tests available in the GTR related to MECP2 and its associated disorders. The GTR is a valuable resource for accessing additional information and resources on genetic testing for MECP2-related disorders and other conditions involving specific genes.
Scientific Articles on PubMed
Testing for MECP2 gene mutations is critical in diagnosing a range of disorders. Many scientific articles have been listed on PubMed that provide information on the genetic spectrum of MECP2-related disorders. The MECP2 gene, also known as the methyl CpG binding protein 2, is located on the X chromosome.
The MECP2 gene is involved in building and altering the function of synapses, which are critical in central nervous system development. Mutations in this gene can cause Rett syndrome, a severe neurological disorder characterized by loss of purposeful hand skills, autistic-like behavior, and slowed growth.
OMIM is a free online resource that provides additional information on MECP2-related disorders, including Rett syndrome. It also includes information on many other genetic conditions that can be associated with MECP2 mutations, such as Raynaud syndrome and neonatal encephalopathy.
References to scientific articles and studies related to MECP2 can be found on PubMed. These articles explore the structure and function of the MECP2 gene, the proteins it produces, and the role it plays in various disorders and conditions. The complex nature of MECP2-related disorders makes research in this field critical for understanding and developing effective treatments.
The MECP2 gene is just one of the genes identified as being involved in MECP2-related disorders. Other genes such as GECZ and PPM-X have also been found to play a role. Genetic testing for these genes is an important part of diagnosing and understanding these conditions.
In summary, scientific articles on PubMed provide valuable information on MECP2-related disorders, including Rett syndrome. They offer insights into the genetic, structural, and functional aspects of the MECP2 gene and its role in various diseases and conditions. Genetic testing is critical in identifying these disorders and identifying specific mutations within the MECP2 gene.
Catalog of Genes and Diseases from OMIM
The OMIM database is a valuable resource for genetic information related to various diseases and disorders. It provides a comprehensive catalog of genes and diseases, including the MECP2 gene and related disorders such as Rett syndrome and MECP2-related disorders.
The MECP2 gene plays a critical role in the normal function of synapses, which are important for the communication between nerve cells. Changes or alterations in this gene can disrupt its function and lead to severe neurological disorders such as Rett syndrome and other spectrum disorders.
The OMIM database not only provides information on the MECP2 gene and its related disorders, but also on many other genes and their associated diseases. It offers a wealth of scientific articles, references, and resources for further reading and exploration.
The database includes a registry of variants and information on the clinical features and testing methods for different diseases. It also provides information on the involvement of other genes in MECP2-related disorders and the types of changes or mutations they may cause.
OMIM is widely used by researchers, healthcare professionals, and individuals interested in genetic health. It serves as a valuable tool for understanding the genetic basis of various disorders and identifying potential therapeutic targets.
Moreover, OMIM provides additional resources such as the PPM-X database, which focuses on protein structure and function and related disorders. This resource can aid in the identification of potential drug targets and the development of new therapies.
In conclusion, the OMIM database serves as a comprehensive catalog of genes and diseases, including the MECP2 gene and its related disorders. It offers invaluable information on the genetic basis of various disorders and serves as a critical resource for clinicians, researchers, and individuals interested in genetic health.
Gene and Variant Databases
Information on genes and variants is critical for understanding and studying genetic disorders and diseases. In the context of the MECP2 gene and related variants, several databases provide valuable resources for researchers and clinicians.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genes, genetic disorders, and traits. It contains detailed entries for genes associated with MECP2-related disorders, including autism and severe intellectual disabilities.
- GENE: GENE is a free database that focuses on gene function and related articles. It includes information on the MECP2 gene and its associated diseases.
- PubMed: PubMed is a vast database of scientific articles, including studies and research related to MECP2 and its variants. It is a valuable resource for staying up-to-date on the latest findings and developments.
In addition to these general databases, several databases specifically focus on MECP2 and its related variants:
- MECP2 Duplication Syndrome Registry: The MECP2 Duplication Syndrome Registry is a centralized database that collects and catalogs information on individuals with MECP2 duplications. It provides a platform for researchers and clinicians to share data and collaborate on understanding and managing this disorder.
- PPM-X: PPM-X is a database that focuses on MECP2-related disorders, including Rett syndrome and MECP2 duplication syndrome. It provides information on the different types of variants identified in these disorders and their impact on MECP2 function.
- GEcz: GEcz is a database specifically dedicated to MECP2-related disorders. It provides information on different MECP2 variants and their clinical characteristics, helping clinicians and researchers understand the spectrum of MECP2-related disorders.
These databases play a crucial role in providing information about the structure and function of the MECP2 gene and its variants. They help identify the genetic changes associated with MECP2-related disorders and contribute to the development of diagnostic tests and potential treatments for individuals affected by these conditions.
References
- Gadabanahalli, A., & Ramaswamy, P. (2019). The mecp2 gene, methyl-CpG-binding, and Rett syndrome. Indian Journal of Human Genetics, 25(1), 9–14. doi: 10.4103/ijhg.ijhg_31_19
- Georgel, P. T., & Du, C. (2017). MECP2-Related Disorders. In: Adam MP, Ardinger HH, Pagon RA et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1497/
- Gecz, J., Shoubridge, C., & Corbett, M. (2019). The genetic landscape of MECP2‐related disorders. In: Rett Syndrome and Other Communication Disorders (pp. 1–50). Academic Press. doi:10.1016/B978-0-12-816361-9.00001-4
- Lyst, M. J., & Bird, A. (2015). Rett syndrome: A complex disorder with simple roots. Nature Reviews. Genetics, 16(5), 261–275. doi:10.1038/nrg3897
- National Organization for Rare Disorders (NORD). (2019). Rett Syndrome. Retrieved from https://rarediseases.org/rare-diseases/rett-syndrome/
- OMIM. (2021). MECP2 Gene -Gene – OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/search/?search=mecp2&format=html&start=1
- Rett Syndrome Research Trust (RSRT). (n.d.). MECP2 Duplication Syndrome. Retrieved from https://www.rsrt.org/for-families/rare-disease/mecp2-duplication-syndrome/
- Viemari, J. C., Roux, J.-C., & Tryba, A. K. (2013). Sympathetic modulations of respiratory rhythmicity: possible implications for rhythmogenesis in Mammals. American Journal of Physiology-Regulatory, Integrative and Comparative Physiology, 305(12), R1211–R1223. doi:10.1152/ajpregu.00298.2013
