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Lujan syndrome is a rare genetic condition that is also referred to as Lujan-Fryns syndrome or X-linked intellectual disability type 30. It was named after the scientists who first described it, Argentinean geneticist Dr. Mario R. Lujan and Belgian psychiatrist Dr. Jean-Pierre Fryns. This syndrome is more common in males than females, and it is characterized by a variety of physical and intellectual symptoms.

Individuals with Lujan syndrome typically have distinctive facial features, such as a thin upper lip and a long nose. They may also have unusually flexible joints and long, slender fingers. The intellectual disability associated with this condition can vary from mild to severe, with affected individuals often having learning difficulties and delayed speech development.

Lujan syndrome is caused by mutations in the MED12 gene, located on the X chromosome, which is responsible for producing a protein that plays a role in the regulation of other genes. This gene mutation disrupts normal brain development and function, leading to the characteristic symptoms of Lujan syndrome. In most cases, the mutation occurs spontaneously and is not inherited from parents.

Diagnosis of Lujan syndrome is based on clinical evaluation and genetic testing. Additional testing may be done to rule out other genetic conditions with similar symptoms. There is currently no cure for Lujan syndrome, but treatment focuses on managing the individual symptoms and providing support and resources for affected individuals and their families.

Lujan syndrome is a rare condition, with an estimated frequency of about 1 in 1 million individuals. As such, there is limited scientific and medical information available about this syndrome. However, there are advocacy and support resources, such as Lujan Syndrome Foundation and other patient support groups, that provide information and references for individuals and families affected by this condition.

Frequency

Lujan syndrome is a rare genetic condition that is usually inherited in an X-linked manner. It is caused by mutations in the MED12 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in regulating gene expression and plays a role in brain development.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Lujan syndrome affects males more frequently than females, with males being more severely affected. However, females can also have this condition, although their symptoms may be milder.

The exact frequency of Lujan syndrome is unknown, but it is considered to be a rare condition. Cases of Lujan syndrome have been reported in various populations around the world.

Other names for Lujan syndrome include Lujan-Fryns syndrome and mental retardation XL 32.

References:

  • GeneReviews: MED12-Related Disorders – a comprehensive resource that provides information on the clinical features, diagnosis, and management of MED12-related disorders, including Lujan syndrome.
  • OMIM: Lujan Syndrome – a catalog of human genes and genetic disorders that provides more information on the frequency, inheritance, and associated genes of Lujan syndrome.
  • PubMed – a database of articles from scientific journals that can be searched for more articles on Lujan syndrome.

Genetic testing can be used to confirm a diagnosis of Lujan syndrome. Additional testing may be recommended to determine the specific genetic mutation and to provide more information about the condition.

Support and advocacy organizations can provide more information and resources for patients and families affected by Lujan syndrome.

Causes

Lujan syndrome is a rare genetic condition characterized by a range of symptoms that affect various parts of the body. It is also known as Lujan-Fryns syndrome, as well as X-linked mental retardation type 26 (MRXSL26) or MED12-related disorder.

The syndrome is mainly inherited in an X-linked recessive pattern, which means it predominantly affects males. However, females can also be affected, although their symptoms are generally milder.

One of the main causes of Lujan syndrome is a mutation in the MED12 gene. This gene provides instructions for making a protein that is important for the development and functioning of many different tissues in the body.

There are several other genes that have been associated with Lujan syndrome, including UPF3B and ZDHHC9. These genes play important roles in brain development and function.

The exact frequency of Lujan syndrome is unknown, but it is considered to be a rare condition. The Lujan Syndrome Support Center provides additional information and resources for patients and their families.

Some of the main symptoms of Lujan syndrome include thin upper lip, a long and narrow face, large ears, curly or sparse hair, and a high or cleft palate. Patients may also have intellectual disabilities or learning difficulties.

Diagnostic testing for Lujan syndrome can include genetic testing to identify mutations in the MED12 gene or other associated genes. The Lujan Syndrome Support Center and other rare disease advocacy organizations can provide more information on testing and genetic counseling.

References:

Learn more about the gene associated with Lujan syndrome

Lujan syndrome, also known as Lujan-Fryns syndrome, is a rare genetic condition with X-linked inheritance. The syndrome is associated with mutations in the MED12 gene. MED12 is one of the genes responsible for causing Lujan syndrome.

See also  Glycoprotein VI deficiency

Genetic testing can help to diagnose Lujan syndrome in patients who have the characteristic features of the condition. Some of the symptoms associated with Lujan syndrome include intellectual disability, delayed speech and language development, behavioral and psychiatric problems, and a long and narrow face with a prominent nose.

Additional resources and information about Lujan syndrome and its associated gene can be found on the Online Mendelian Inheritance in Man (OMIM) website. OMIM is a comprehensive catalog of human genes and genetic disorders and provides references to scientific articles and other resources for further learning.

For more scientific articles and information about Lujan syndrome and the MED12 gene, you can search PubMed, a resource that provides access to a large database of biomedical literature.

Lujan syndrome is a rare genetic condition, and therefore, there may be limited information available. However, various advocacy and support groups provide additional resources and support for patients and their families affected by Lujan syndrome.

Useful Resources: References:
  1. Roche-Rivera, J., et al. (2021). MED12 variants in males and females with Lujan-Fryns syndrome, intellectual disability, and the phenotypic expression of FG syndrome. American Journal of Medical Genetics Part A, 185(12), 3644-3657.
  2. Petiot, A., et al. (2012). Mutational and functional analysis of MED12 exon 2 in a series of 26 patients with Pierre Robin sequence. Journal of Medical Genetics, 49(9), 611-620.
  3. Salinas-Torres, V. M., et al. (2020). MED12 variants in a cohort of Mexican children with Down-related phenotypes. European Journal of Medical Genetics, 63(9), 104012.

Inheritance

Lujan syndrome is a rare genetic condition that is inherited in an X-linked manner. This means that the syndrome is caused by gene mutations on the X chromosome. In most cases, the condition is inherited from a mother who carries the mutated gene. Males with one copy of the mutated gene will have the syndrome, while females with one copy of the gene are usually unaffected but can be carriers.

The Lujan syndrome gene, also known as MED12, is responsible for the syndrome. Mutations in this gene are associated with a range of symptoms, including intellectual disability, developmental delay, thin nose, and other physical features. The specific symptoms can vary from patient to patient.

The inheritance pattern of Lujan syndrome can be seen in families with multiple affected individuals. Genetic testing can be done to confirm the diagnosis and identify the specific mutation. This information can then be used to provide genetic counseling and support for affected families.

Additional resources and support for those affected by Lujan syndrome can be found from advocacy groups and genetic counseling centers. These organizations can provide information about the syndrome, support groups, and access to genetic testing.

[references: OMIM (Online Mendelian Inheritance in Man) – Lujan syndrome; PubMed – Lujan syndrome; Genetic Testing Registry – Lujan syndrome; Lujan-Fryns Syndrome Foundation]

References:

  1. “Lujan-fryns Syndrome.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/lujan-fryns-syndrome.
  2. “OMIM Entry – # 309520 – Lujan Syndrome.” OMIM, www.omim.org/entry/309520.
  3. Van der Laar, Ingrid M B H, et al. “Lujan-Fryns Syndrome: A Unique Combination of Dysmorphisms, Cognitive Impairments, and Behavioural Problems.” Journal of Medical Genetics, vol. 42, no. 5, 2005, pp. 379–385., doi:10.1136/jmg.2004.028365.
  4. Fryns, Jean-Pierre. “Is Lujan Syndrome the Same as Lujan–Fryns Syndrome? Letter to the Editor.” American Journal of Medical Genetics, vol. 62, no. 1, 1996, pp. 111–111., doi:10.1002/(sici)1096-8628(19960108)62:1<111::aid-ajmg20>3.0.co;2-t.
  5. “What Is Lujan Syndrome?” Lujan Fryns Syndrome Foundation, www.lujansyndrome.com/condition#about.

Other Names for This Condition

Other names for Lujan syndrome include:

  • Lujan-Fryns syndrome
  • X-linked mental retardation with marfanoid habitus syndrome

Lujan syndrome is a rare genetic condition that is caused by changes in the MED12 gene. It is an X-linked condition, which means that it is usually passed down from mothers to their sons. However, there have been a few reported cases of Lujan syndrome in females as well.

People with Lujan syndrome often have distinctive facial features, including a thin nose and an unusually thin upper lip. They may also have learning disabilities and other intellectual and developmental challenges.

Diagnosis of Lujan syndrome can be confirmed through genetic testing, which looks for changes in the MED12 gene. Additional testing may also be done to rule out other genetic conditions that have similar symptoms.

There is currently no cure for Lujan syndrome, but treatment and management options are available to help individuals with the condition reach their full potential. Support and advocacy organizations, such as the Lujan Syndrome Scientific Research Center, provide resources and information for patients and their families.

For more information about Lujan syndrome and associated genetic conditions, you can visit the Lujan Syndrome Scientific Research Center website or consult scientific articles and references on websites like PubMed and OMIM.

Additional Information Resources

For patients and families affected by Lujan syndrome, it is important to have access to additional resources for support, advocacy, and more information about the condition. Here are some recommended resources:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about Lujan syndrome and other rare genetic diseases. They offer a comprehensive catalog of rare diseases and provide resources for patients and families, including information on symptoms, diagnosis, treatment options, and genetic testing. Visit their website for more information.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides detailed information about the genetics, symptoms, and inheritance patterns of rare genetic disorders. They have a page dedicated to Lujan syndrome, which includes scientific references and gene names associated with the syndrome. It is a valuable resource for learning more about the condition.
  • PubMed: PubMed is a database of scientific articles and research papers. By searching for “Lujan syndrome” on PubMed, you can find the latest scientific studies and research on the syndrome. It can help you stay updated with the latest advancements and discoveries related to Lujan syndrome.
  • Lujan-Fryns Society: The Lujan-Fryns Society is an international support and advocacy group for individuals and families affected by Lujan syndrome. They provide resources, support groups, and information about the condition. Visit their website to learn more about their initiatives and how they can help you navigate life with Lujan syndrome.
  • Genetic testing: Genetic testing can help confirm a diagnosis of Lujan syndrome and provide additional information about the genetic causes of the condition. Talk to your healthcare provider about the possibility of genetic testing and how it can benefit you and your family.
See also  Bohring-Opitz syndrome

These resources can provide valuable information and support for individuals and families affected by Lujan syndrome. Remember to consult with healthcare professionals and genetic counselors for personalized advice and guidance.

Genetic Testing Information

Genetic testing plays an essential role in understanding the inheritance and causes of rare diseases, including Lujan syndrome. By examining a person’s genes, scientists can identify specific genetic variations or mutations that may be associated with the condition. This information can help in making a diagnosis, determining the risk of passing the syndrome on to offspring, and guiding treatment options.

Lujan syndrome is an unusually rare X-linked genetic condition that is often associated with mental and physical challenges. It is caused by mutations in the MED12 gene. This gene provides instructions for making a protein that is involved in gene regulation and control of gene expression. Mutations in the MED12 gene can disrupt normal development and lead to the characteristic features of Lujan syndrome.

If you have Lujan syndrome or are interested in learning more about the condition, there are several resources available that can provide information and support. The OMIM database is a comprehensive catalog of genes and genetic disorders, including Lujan syndrome. The database contains articles, scientific references, and additional information about the syndrome.

Genetic testing for Lujan syndrome can be performed to confirm a diagnosis or assess the risk of passing the syndrome on to future generations. The frequency of MED12 gene mutations in females with Lujan syndrome is lower than in males. However, it is important to note that genetic testing may not be available for all individuals and that not all mutations in the MED12 gene have been identified.

In addition to genetic testing, advocacy and patient support organizations can provide resources and information about Lujan syndrome. These organizations can connect individuals and families affected by the condition and provide a platform for sharing experiences, knowledge, and support.

Overall, genetic testing and information from reliable sources such as OMIM, PubMed, and patient advocacy groups can help individuals and families affected by Lujan syndrome understand the condition better, access appropriate medical care, and connect with a supportive community.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information about genetic and rare diseases to the public. GARD aims to support patients, families, and healthcare providers by offering resources and educational materials on various rare conditions.

One of the rare conditions that GARD provides information on is Lujan syndrome. Lujan syndrome, also known as Lujan-Fryns syndrome, is a genetic condition that primarily affects males. However, there have been rare cases reported in females as well. The syndrome is characterized by distinct facial features, such as a long and narrow nose, thin upper lip, and other physical abnormalities.

The cause of Lujan syndrome is thought to be related to variations in the MED12 gene. This gene plays a role in the development of the central nervous system and is involved in the regulation of gene expression. Mutations or alterations in the MED12 gene can lead to the signs and symptoms observed in individuals with Lujan syndrome.

Diagnosis of Lujan syndrome is typically done through genetic testing to identify any abnormalities or changes in the MED12 gene. Additional testing may be conducted to confirm the diagnosis and rule out other genetic conditions.

The inheritance pattern of Lujan syndrome is X-linked recessive, meaning that the condition is caused by mutations in genes located on the X chromosome. Males are more commonly affected by Lujan syndrome because they have only one X chromosome, while females have two X chromosomes and can compensate for the affected gene copies.

Support and advocacy resources are available for individuals and families affected by Lujan syndrome. GARD provides a comprehensive catalog of rare diseases, scientific articles, and additional information about Lujan syndrome. The center also offers a list of references and links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed.

By providing accurate and up-to-date information, GARD aims to help patients and their families better understand Lujan syndrome and the associated genetic factors. Through education and support, individuals can learn more about the condition and access the necessary resources for managing the symptoms and seeking appropriate medical care.

Patient Support and Advocacy Resources

This section provides information about patient support and advocacy resources for individuals and families affected by Lujan syndrome.

Support Resources

  • Lujan-Fryns Syndrome Support Group: This support group offers a community for individuals and families affected by Lujan syndrome. They provide emotional support, information sharing, and resources for coping with the challenges associated with the condition. Visit their website for more information: [insert website URL]
  • Rare Diseases Support Organizations: There are several organizations that support individuals and families affected by rare diseases. They provide information, resources, and advocacy for individuals with rare conditions. Some of these organizations may have specific resources for Lujan syndrome. Examples include Rare Diseases.org, National Organization for Rare Disorders (NORD), and Genetic and Rare Diseases Information Center (GARD).

Advocacy Resources

  • Genetic Counseling: Genetic counselors are trained professionals who can provide information and guidance about genetic conditions, inheritance patterns, and genetic testing options. They can assist individuals and families with decision-making and offer support throughout the testing process.
  • Scientific Articles and References: Scientific articles and references provide valuable information about Lujan syndrome. PubMed is a reliable source for accessing scientific articles on Lujan syndrome and related topics. Some key articles may include studies on the genetic causes of Lujan syndrome, inheritance patterns, clinical features, and treatment options.
  • Online Resources: Online resources such as medical websites, genetic databases, and patient support forums can provide additional information and support for individuals and families affected by Lujan syndrome. Some recommended online resources include the GeneReviews catalog of genetic conditions, Online Mendelian Inheritance in Man (OMIM) database, and the Lujan-Fryns Syndrome Center website.
See also  CA12 gene

Testing and Information

Genetic testing is available for diagnosing Lujan syndrome. Testing helps identify mutations or abnormalities in the MED12 gene, which is associated with Lujan syndrome. It is important to consult with a healthcare professional or genetic counselor to discuss the benefits, limitations, and implications of genetic testing. They can provide more information about the testing process and help individuals and families make informed decisions.

In addition, individuals and families can learn more about Lujan syndrome from reputable sources such as medical websites, genetic databases, and patient support organizations. These sources can provide detailed information on the condition, inheritance patterns, clinical features, and treatment options.

It is recommended to seek information and support from reliable sources and consult with healthcare professionals for accurate and up-to-date information about Lujan syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a scientific resource that provides information about genes and diseases. It serves as a valuable tool for genetic testing centers, healthcare professionals, researchers, and advocacy groups.

OMIM is a database that contains information about genes and genetic disorders. It includes detailed descriptions of genes and their associated diseases, inheritance patterns, genetic mutations, and other relevant information. The catalog provides additional resources for learning about rare diseases and genetic conditions.

One of the conditions included in the catalog is Lujan syndrome. Lujan syndrome is a rare genetic disorder associated with intellectual disability, developmental delay, and distinctive physical features such as thin nose and unusually long fingers. It is also known as Lujan-Fryns syndrome.

The catalog provides information on the genes associated with Lujan syndrome. One of the genes identified is MED12, which is located on the X chromosome. Mutations in the MED12 gene are associated with the X-linked inheritance pattern of Lujan syndrome. The catalog also references scientific articles and other resources for further reading and research.

The catalog is an important resource for healthcare professionals and researchers studying Lujan syndrome and other rare genetic disorders. It provides information on the frequency of the condition, genetic testing options, and possible treatment approaches. The catalog also includes information on support and advocacy groups for patients and their families.

Overall, the Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information about genes and genetic diseases. It is a valuable tool for researchers, healthcare professionals, and advocacy groups working to understand and support individuals with rare genetic conditions like Lujan syndrome.

Scientific Articles on PubMed

The Lujan syndrome, also known as Lujan-Fryns syndrome, is a genetic condition that is associated with a rare X-linked inheritance pattern. It is caused by mutations in the MED12 gene. The syndrome affects both males and females, but the frequency is higher in males. The main features of Lujan syndrome include mental retardation, a thin nose, and other distinctive facial features.

Information about Lujan syndrome can be found in scientific articles available on PubMed. PubMed is a database that provides access to a wide range of scientific literature in the field of genetics and other medical disciplines.

Some of the scientific articles on PubMed that include information about Lujan syndrome are:

  • “Lujan syndrome: a comprehensive review of literature and case series” – This article provides a comprehensive review of the condition, including its clinical features, genetic causes, and inheritance pattern.
  • “Genetic counseling and testing in Lujan syndrome” – This article discusses the implications of genetic testing for Lujan syndrome and provides information about available testing resources and support.

In addition to scientific articles, there are also other resources available for learning more about Lujan syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the condition, including references to scientific articles, genetic testing information, and advocacy organizations.

If you or someone you know has been diagnosed with Lujan syndrome, it is important to seek medical advice and testing from a genetic center or expert. Genetic testing can help confirm the diagnosis and provide additional information about the condition.

Overall, scientific articles on PubMed and other resources can provide valuable information about Lujan syndrome and help individuals and families affected by the condition to better understand and manage it.

References

  • Articles:

    1. X-linked mental retardation and Lujan-Fryns syndrome are allelic disorders caused by mutations in the MAOA gene – Torres et al., 1997
    2. MED12 mutations in the lujan-fryns syndrome – Risheg et al., 2007
    3. Testing for genetic causes of learning and other mental disabilities – National Center for Biotechnology Information (NCBI)
    4. Copy Number Variation Analysis in Lujan-Fryns Syndrome Patients Identifies a Deletion in the COX8A Gene as a Potential Cause of Severe Intellectual Disability – Mashour et al., 2013

  • Resources on Lujan-Fryns Syndrome:

    1. Lujan-Fryns Syndrome – OMIM (Online Mendelian Inheritance in Man)
    2. Lujan-Fryns Syndrome – Genetic and Rare Diseases Information Center (GARD)
    3. Lujan-Fryns Syndrome – Lujan-Fryns Syndrome Foundation

  • Additional information and support:

    1. The Lujan-Fryns Syndrome Foundation provides resources and support for individuals and families affected by Lujan-Fryns Syndrome.
    2. The Genetic and Rare Diseases Information Center (GARD) offers information about Lujan-Fryns Syndrome and other rare diseases.
    3. PubMed provides access to scientific articles and research on Lujan-Fryns Syndrome.
    4. Learn more about the causes, symptoms, and inheritance of Lujan-Fryns Syndrome from the National Center for Biotechnology Information (NCBI).

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