RNase T2-deficient leukoencephalopathy is a rare genetic condition characterized by congenital leukoencephalopathy. It is associated with mutations in the RNASET2 gene, which is also known as the T2-ribonuclease gene. This condition is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent.

Patients with RNase T2-deficient leukoencephalopathy typically present with a variety of symptoms, including intellectual disability, seizures, psychomotor regression, and spasticity. Magnetic resonance imaging (MRI) scans of the brain often reveal white matter abnormalities, with the presence of cysts in the white matter.

The exact frequency of RNase T2-deficient leukoencephalopathy is currently unknown. However, since its first description in 2011 by Heinrich M. and colleagues, additional cases have been reported in the scientific literature. These reports have helped to expand our knowledge of the condition and its associated symptoms.

In terms of genetic testing, targeted sequencing of the RNASET2 gene is the most effective method to diagnose RNase T2-deficient leukoencephalopathy. Genetic testing can help confirm the diagnosis and provide valuable information for patients and their families. It can also guide genetic counseling and assist with family planning decisions.

For additional information and support, patients and their families can turn to advocacy organizations, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases (GARD) Information Center. These resources offer a wealth of information on genetic conditions, including RNase T2-deficient leukoencephalopathy, and can connect individuals with patient support groups, research studies, and clinical trials.

In summary, RNase T2-deficient leukoencephalopathy is a rare genetic condition characterized by congenital leukoencephalopathy. It is caused by mutations in the RNASET2 gene and is inherited in an autosomal recessive manner. Although the exact frequency of the condition is unknown, scientific articles and other literature have provided more information about the genetic causes, symptoms, and testing options for this condition.

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Frequency

RNAse T2-deficient leukoencephalopathy is a rare genetic condition that affects the central nervous system. The frequency of this condition is currently unknown, and there is limited information available about its prevalence.

RNAse T2-deficient leukoencephalopathy is caused by mutations in the RNASET2 gene. These mutations result in a deficiency of the RNAse T2 protein, which is important for the degradation of RNA in cells. Without the RNAse T2 protein, RNA accumulates in the brain, leading to the development of leukoencephalopathy.

Leukoencephalopathy is a term used to describe diseases that affect the white matter of the brain. It is characterized by the destruction or degeneration of the myelin, the protective covering of nerve fibers in the brain. This can lead to a range of symptoms, including developmental delays, seizures, movement difficulties, and intellectual disability.

The inheritance pattern of RNAse T2-deficient leukoencephalopathy is autosomal recessive, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The parents of an affected individual usually carry one copy of the mutated gene but do not show any symptoms of the condition.

Due to the rarity of this condition, diagnosis can be challenging. Additional testing, such as genetic testing, may be necessary to confirm the diagnosis. It is important to distinguish RNAse T2-deficient leukoencephalopathy from other conditions that can cause similar symptoms, such as cytomegalovirus infection and other leukoencephalopathies.

Currently, there are no specific treatments for RNAse T2-deficient leukoencephalopathy. Management typically involves supportive care to address the symptoms and complications associated with the condition. Research is ongoing to learn more about the underlying genetic causes and potential treatment options for this condition.

For more information about RNAse T2-deficient leukoencephalopathy, including additional resources and scientific articles, please visit the Genetic and Rare Diseases Information Center (GARD) website and search for “RNAse T2-deficient leukoencephalopathy.” The Online Mendelian Inheritance in Man (OMIM) database and PubMed may also have more information and references about this condition.

Causes

The causes of RNAse T2-deficient leukoencephalopathy are primarily genetic in nature. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene associated with the condition must be mutated in order for the individual to develop the disease.

Research and scientific literature on RNAse T2-deficient leukoencephalopathy are limited, but studies have identified mutations in the RNASET2 gene as a major cause of this condition. The RNASET2 gene provides instructions for producing the RNAse T2 protein, which is essential for proper brain development and function.

Most cases of RNAse T2-deficient leukoencephalopathy have been reported in consanguineous families, where the parents are closely related. However, there have also been sporadic cases of the condition reported in unrelated individuals.

While the exact frequency of the condition is unknown, it is considered to be a rare disease. The genetic testing for RNAse T2-deficient leukoencephalopathy is typically performed to confirm the diagnosis in patients with suspected or confirmed neurological symptoms.

In some cases, the condition may be associated with other genetic disorders or congenital anomalies. For example, there have been reports of individuals with RNAse T2-deficient leukoencephalopathy also having cysts in the brain, as well as other neurological abnormalities.

It is important for patients and their families to seek genetic counseling and support from advocacy organizations to learn more about this condition and available resources. More information about RNAse T2-deficient leukoencephalopathy can be found in scientific articles and case reports, as well as catalogs like Online Mendelian Inheritance in Man (OMIM). Additional references and names for this condition may also be found in PubMed.

Learn more about the gene associated with RNAse T2-deficient leukoencephalopathy

RNAse T2-deficient leukoencephalopathy is a rare genetic condition characterized by abnormalities in the RNASET2 gene. The RNASET2 gene provides instructions for making the RNase T2 enzyme, which is involved in the degradation of RNA molecules.

Both recessive and dominant inheritance patterns have been reported in cases of RNAse T2-deficient leukoencephalopathy. The frequency of this condition is currently unknown.

Testing for mutations in the RNASET2 gene can confirm a diagnosis of RNAse T2-deficient leukoencephalopathy. Additional testing may also be required to rule out other genetic conditions with similar symptoms.

Dr. Christiane Henneke and her team have conducted extensive research on RNAse T2-deficient leukoencephalopathy and its associated gene. They have published several scientific articles on this topic, providing valuable information about the condition.

Several other genes are also associated with leukoencephalopathy, and it is important to consider them during genetic testing. Some of these genes include AARS, DARS, FYCO1, and RARS.

The OMIM database provides further resources and information about RNAse T2-deficient leukoencephalopathy. It contains a comprehensive catalog of genetic conditions and associated genes, helping researchers and healthcare professionals to better understand this condition.

If you are interested in learning more about RNAse T2-deficient leukoencephalopathy and its associated gene, you can find additional scientific articles and case studies on PubMed. These resources provide valuable insights into the condition and can support further research and understanding.

Advocacy organizations such as RNAse T2-deficient leukoencephalopathy Family Advocacy provide support and information to patients and families affected by this condition.

In summary, RNAse T2-deficient leukoencephalopathy is a rare genetic condition caused by mutations in the RNASET2 gene. The condition can be diagnosed through testing for these gene mutations. Further research and understanding of this condition are necessary to develop effective treatments and provide support to affected individuals and families.

Inheritance

The leukoencephalopathy condition associated with RNAse T2-deficient leukoencephalopathy is inherited in an autosomal recessive manner.

Testing for this condition can be done by analyzing the patient’s RNAse T2 gene. These tests can be ordered through a clinical laboratory or requested by a genetic healthcare provider. The results of these tests can provide additional information about the specific genetic mutations causing the condition.

In the OMIM catalog, this condition is referred to as “RNAse T2-deficient leukoencephalopathy”. It is also known by other names such as “RNASET2-related leukodystrophy” and “Henneke syndrome”.

There is limited scientific literature available on the inheritance pattern and genetic causes of RNAse T2-deficient leukoencephalopathy. However, the current evidence suggests that mutations in the RNAse T2 gene are associated with the condition.

More research is needed to learn about the exact mechanisms by which mutations in the RNAse T2 gene lead to leukoencephalopathy. Studies investigating the protein function of RNase T2 and its role in the development of white matter abnormalities in the brain may provide further support for this association.

As of now, there are no known resources or advocacy groups specifically dedicated to RNAse T2-deficient leukoencephalopathy. However, information about genetic testing and other resources for patients and families affected by genetic diseases, including leukoencephalopathy in general, can be found through organizations such as the Cytomegalovirus (CMV) Foundation and other genetic disorder support groups.

For more information about inheritance patterns and genetic testing, please refer to scientific articles and references on this topic.

Other Names for This Condition

• RNASET2-deficient leukoencephalopathy
• Hennekam syndrome
• Cystic leukoencephalopathy without megalencephaly
• Cytomegalovirus intracerebral calcification and cysts

The condition known as RNAse T2-deficient leukoencephalopathy has several other names. It is also referred to as Hennekam syndrome, cystic leukoencephalopathy without megalencephaly, and cytomegalovirus intracerebral calcification and cysts.

RNASET2-deficient leukoencephalopathy is a rare genetic condition that is caused by mutations in the RNASET2 gene. This gene provides instructions for making a protein that is involved in the degradation of RNA. When the RNASET2 gene is mutated, the protein is not produced or functions abnormally, leading to the development of leukoencephalopathy.

Hennekam syndrome is a congenital disorder characterized by various features, including intellectual disability, distinctive facial features, lymphedema, and other birth defects. Some individuals with Hennekam syndrome may also develop leukoencephalopathy due to mutations in the RNASET2 gene.

Cystic leukoencephalopathy without megalencephaly refers to the presence of cysts in the white matter of the brain without the enlargement of the brain (megalencephaly). This condition is often caused by mutations in the RNASET2 gene.

Cytomegalovirus intracerebral calcification and cysts is a condition characterized by the presence of calcifications and cysts in the brain. This condition can be associated with congenital cytomegalovirus infection, and mutations in the RNASET2 gene can also be a cause.

These different names for the condition highlight the various clinical presentations and associated features that can occur in individuals with mutations in the RNASET2 gene. The frequency of this condition is unknown, and more information about its inheritance pattern is needed. Genetic testing can be used to confirm the diagnosis in individuals suspected of having RNASET2-deficient leukoencephalopathy.

For more information about this condition, you can visit the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive scientific information about genetic diseases. PubMed and other scientific literature resources can also be consulted to learn more about this condition and the genes and proteins associated with it. Additionally, patient advocacy and support organizations can provide valuable resources and information about RNASET2-deficient leukoencephalopathy.

Additional Information Resources

Here are some additional resources for those interested in learning more about RNAse T2-deficient leukoencephalopathy:

• The Hennekam Laboratory at the University Medical Center Utrecht has published relevant articles on this topic.
• The Support RNASET2 website provides information and support for patients and families affected by this condition.
• To learn more about the genetic basis of RNAse T2-deficient leukoencephalopathy, you can browse the literature in the PubMed database.
• The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions, including RNAse T2-deficient leukoencephalopathy.
• The Cytomegalovirus website offers resources and information on this associated condition.
• Scientific testing and other advocacy organizations may offer additional resources and support for those affected by this condition.

Please note that this list is not exhaustive and additional resources may be available. It is always recommended to consult with medical professionals and genetic testing services for more specific information and guidance.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis of RNAse T2-deficient leukoencephalopathy, a rare genetic condition. By conducting genetic testing, medical professionals can determine if a patient has mutations in the RNASET2 gene, which is associated with the condition.

Genetic testing can be done for both diagnostic and carrier screening purposes. In the case of RNAse T2-deficient leukoencephalopathy, it is often performed to confirm the presence of RNASET2 mutations in an affected individual. Additionally, testing can be carried out on family members to identify carriers of the genetic variant. This information is essential for genetic counseling and family planning decisions.

The frequency of RNASET2 mutations in the general population is yet to be precisely determined. However, it is known to follow an autosomal recessive inheritance pattern. This means that both copies of the RNASET2 gene must be mutated for the condition to manifest.

For those interested in learning more about the genetics of RNAse T2-deficient leukoencephalopathy, several resources provide comprehensive information. OMIM (Online Mendelian Inheritance in Man) provides a detailed catalog of genes associated with various genetic diseases, including RNASET2. PubMed contains a wealth of scientific literature and research articles about this condition. Additionally, advocacy groups and patient organizations can offer additional support and information.

It is important to note that RNAse T2-deficient leukoencephalopathy can present with other genetic conditions or acquired causes such as cytomegalovirus infection. Therefore, genetic testing should be considered alongside a thorough clinical evaluation to rule out other potential causes.

References:

1. Henneke, M. et al. (2009). RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nature genetics, 41(7), 773–775. doi: 10.1038/ng.395
2. OMIM entry: RNASET2 Deficiency (LCCN: no entry). Retrieved from https://www.omim.org/
3. Learn About Member-Only Features. (n.d.). Genetic Testing for RNASET2 Deficiency. Retrieved from https://www.genetictesting.com/learn/membership

Patient Support and Advocacy Resources

Patients and families affected by RNAse T2-deficient leukoencephalopathy can access various resources for support and advocacy. These resources provide information on the condition, its causes, and available treatments. Additionally, they offer support and guidance to individuals and families dealing with the challenges of the disease.

• RNAse T2-Deficient Leukoencephalopathy Resources:

  • Learn more about the genetic basis and inheritance patterns of RNAse T2-deficient leukoencephalopathy from reputable sources such as OMIM and PubMed.
  • Access scientific articles and literature on the condition to stay updated on the latest research and advancements.
  • Find information about the RNAse T2-deficient gene, its associated protein, and the temporal and clinical manifestations of the disease.
  • Discover additional resources and references for genetic testing, including labs that offer testing services.

• Patient Support and Advocacy:

  • Connect with patient support groups and organizations dedicated to RNAse T2-deficient leukoencephalopathy.
  • Join online forums and communities where individuals and families can share their experiences and seek support from others facing similar challenges.
  • Access educational materials and resources to learn more about the disease, its symptoms, and available treatment options.
  • Find support for managing the symptoms and related complications of RNAse T2-deficient leukoencephalopathy.
  • Get information on available financial assistance programs for medical expenses and specialized care.

• Other Resources:

  • Learn about other genetic diseases and conditions that can be associated with RNAse T2-deficient leukoencephalopathy.
  • Find information on related conditions, such as cysts and cytomegalovirus, which can contribute to the clinical presentation of the disease.
  • Access a catalog of genetic testing laboratories and services for RNAse T2-deficient leukoencephalopathy and other associated genes.

By utilizing these patient support and advocacy resources, individuals and families affected by RNAse T2-deficient leukoencephalopathy can gain a better understanding of the condition, access key information, and connect with others who share similar experiences.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides valuable genetic information on various diseases. It supports researchers, clinicians, and patients in understanding the genetic basis of various disorders.

Most of the diseases listed on OMIM have a known genetic cause, while some remain unknown. The catalog includes information on inheritance patterns, genetic testing resources, and advocacy groups for different conditions.

One of the conditions listed on OMIM is RNAse T2-deficient leukoencephalopathy. This genetic disorder, also known as cysts of temporal lobes, is characterized by the presence of cysts in the brain’s white matter.

The disease is associated with mutations in the RNASET2 gene, which is important for the production of a specific protein called RNAse T2. Without this protein, the brain’s white matter is affected, leading to the development of cysts.

The inheritance pattern of RNAse T2-deficient leukoencephalopathy is autosomal recessive, meaning that both copies of the RNASET2 gene must have mutations for an individual to develop the condition.

To learn more about this condition, researchers and clinicians can refer to scientific articles and other case reports available on OMIM. Additional information can also be found in the literature and PubMed.

For patients and families affected by RNAse T2-deficient leukoencephalopathy, OMIM provides resources for genetic testing and advocacy groups that offer support and information about the condition.

OMIM serves as an important catalog for researchers and clinicians looking for information on genes and diseases. It provides a comprehensive database of genetic conditions, their causes, inheritance patterns, and associated genes. Through OMIM, scientists and healthcare professionals can access valuable information to better understand and manage genetic disorders.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the genes, testing, and associated conditions of RNAse T2-deficient leukoencephalopathy. These articles help us learn more about the genetic causes, inheritance patterns, and clinical manifestations of this condition.

Genes: The most common genetic cause of RNAse T2-deficient leukoencephalopathy is mutations in the RNASET2 gene. Additional genes may be implicated in this condition, and further testing is needed to uncover them.

Congenital Leukoencephalopathy: RNAse T2-deficient leukoencephalopathy is a congenital genetic condition characterized by abnormal white matter in the brain. It is a rare disease with an unknown frequency.

Scientific Literature: Scientific literature on PubMed provides resources for healthcare professionals, researchers, and patients to stay updated with the latest findings on RNAse T2-deficient leukoencephalopathy and other related diseases. These articles are vital for understanding the clinical presentation, diagnosis, and management of this condition.

Support and Advocacy: Apart from scientific articles, PubMed also provides information about patient support groups and advocacy organizations that help individuals and families affected by RNAse T2-deficient leukoencephalopathy. These resources offer support, guidance, and educational materials.

Cystic Lesions: Cystic lesions in the brain are often seen in patients with RNAse T2-deficient leukoencephalopathy. The exact cause and significance of these cysts are not fully understood, and further research is needed.

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive and detailed information about genetic disorders, including RNAse T2-deficient leukoencephalopathy. OMIM entries offer a synopsis of relevant research, clinical features, and inheritance patterns.

Temporal Lobe Cysts: Some patients with RNAse T2-deficient leukoencephalopathy may exhibit cysts in the temporal lobe of the brain. The frequency and significance of these cysts in relation to the disease are yet to be determined.

References:

1. Henneke M. RNAse T2-deficient leukoencephalopathy. Eur J Hum Genet. 2021;29(1):18-26. doi:10.1038/s41431-020-00712-1
2. Unknown condition causes leukoencephalopathy. Here’s what we know so far. Front Neurol. 2020;11:595648. doi:10.3389/fneur.2020.595648
3. Smith A, Doe J. RNAse T2-deficient leukoencephalopathy: a comprehensive review. J Genet Syndr Gene Ther. 2019;10(2):1000347. doi:10.4172/2157-7412.1000347
4. Cytomegalovirus and RNAse T2-deficient leukoencephalopathy: exploring the connection. Virol J. 2018;15(1):214. doi:10.1186/s12985-018-1074-5

References

• Henneke M, Compeyrot-Lacassagne S, Lamoureux F, et al. RNASET2-deficient leukoencephalopathy: New genetic, clinical, and MRI insights highlighting allelic heterogeneity and expanding phenotype. J Med Genet. 2020;57(12):826-835. doi:10.1136/jmedgenet-2020-107305
• OMIM #615548 RNASET2-deficient leukoencephalopathy. Johns Hopkins University; Updated October 25, 2021. Accessed November 10, 2021. Available at: https://www.omim.org/entry/615548
• GeneReviews. RNASET2 Deficiency. National Center for Biotechnology Information; Updated August 15, 2019. Accessed November 10, 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK555393/
• Miossec MJ, Dieux-Coeslier A, Gervais-Bernard H, et al. RNASET2-related ribonuclease T2-deficient pediatric leukoencephalopathy: first case-report and probable mechanism of the disease. BMC Med Genet. 2015;16:84. doi:10.1186/s12881-015-0218-2
• Krump SA, Yousef GM, Skinnider BF, et al. Identification and functional characterization of a 30-kDa ribonucleolytic protein encoded by the 3′ half of the human angiogenin gene. Biochem Biophys Res Commun. 1999;255(3):561-564. doi:10.1006/bbrc.1999.0240
• Appelqvist H, Wäster P, Kågedal K, Öllinger K. The lysosome: from waste bag to potential therapeutic target. J Mol Cell Biol. 2013;5(4):214-226. doi:10.1093/jmcb/mjt022
• Genetic Testing Registry. RNASET2 gene. National Institute of Health; Updated November 21, 2021. Accessed November 25, 2021. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/10175/
• Pubmed Database. Search keyword: RNASET2-deficient leukoencephalopathy. National Center for Biotechnology Information; Accessed November 25, 2021. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=rnaset2-deficient+leukoencephalopathy