Miller-Dieker syndrome

Miller-Dieker syndrome, also known as Lissencephaly Type I, is a rare genetic disorder that is associated with a loss of genetic material on chromosome 17. This condition is characterized by a smooth brain surface, often referred to as “smooth brain” or “lissencephaly”.

Individuals with Miller-Dieker syndrome usually have developmental delays, intellectual disabilities, and seizures. Other symptoms may include facial abnormalities, such as a high forehead, malformed ears, and a small jaw. These individuals may also experience feeding difficulties and have low muscle tone.

The classical causes of Miller-Dieker syndrome are deletions or mutations in the LIS1 gene, located on chromosome 17. This gene plays a crucial role in brain development. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected.

There is currently no cure for Miller-Dieker syndrome, but there are a variety of support resources available for individuals and families dealing with this condition. Genetic testing can help confirm a diagnosis and provide information about the inheritance pattern of the syndrome.

Additional information about Miller-Dieker syndrome can be found in scientific articles and publications, such as those on PubMed and OMIM. Organizations like the Genetic and Rare Diseases Information Center and advocacy groups like the Miller-Dieker Syndrome Foundation provide further resources and support for individuals and families affected by this rare genetic syndrome.

Frequency

Miller-Dieker syndrome is a rare genetic condition that affects the development of the brain and causes intellectual disability. It is estimated to occur in about 1 in 100,000 live births.

The frequency of Miller-Dieker syndrome may vary across different populations and regions. It is more common in individuals of Japanese descent, particularly the southern regions of Japan, where the frequency is estimated to be as high as 1 in 10,000 live births.

The syndrome was first described by Drs. John Miller and William Dieker in 1963. Since then, scientific research and testing have helped to identify the genetic causes and inheritance patterns associated with this condition.

Miller-Dieker syndrome is caused by a deletion or loss of genetic material on the short arm of chromosome 17. This deletion affects a gene called LIS1 (also known as PAFAH1B1), which plays a crucial role in brain development. Other genes may also be involved in the condition, but LIS1 is the most well-known gene associated with Miller-Dieker syndrome.

The inheritance pattern of Miller-Dieker syndrome is most commonly described as autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, the majority of cases occur sporadically, meaning they are not inherited from a parent and are instead caused by a new mutation in the affected individual.

Miller-Dieker syndrome is typically diagnosed based on the characteristic symptoms and physical features observed in the patient. This may include a smoothness of the brain surface, known as lissencephaly, as well as additional abnormalities such as facial dysmorphism, seizures, and developmental delays.

There are several resources available for individuals and families affected by Miller-Dieker syndrome. These include support organizations, advocacy groups, and online articles providing additional information about the condition. The Online Mendelian Inheritance in Man (OMIM) catalog also contains a comprehensive entry on Miller-Dieker syndrome, where individuals can learn more about the condition and find scientific references for further reading.

In conclusion, Miller-Dieker syndrome is a rare genetic condition with a frequency of approximately 1 in 100,000 live births. It is associated with a deletion or loss of genetic material on chromosome 17, particularly the LIS1 gene. Although it can be inherited, most cases occur sporadically. Resources and support are available for individuals and families affected by this condition.

Causes

The classical form of Miller-Dieker syndrome is caused by a genetic loss on chromosome 17 band p13.3. This region is also known as the Miller-Dieker critical region. The frequency of this condition is rare, with an estimated incidence of 1 in 100,000 births.

Miller-Dieker syndrome is probably genetic in nature, as it can be inherited from parents who carry the abnormal chromosome 17. The mode of inheritance is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to be present.

In most cases, Miller-Dieker syndrome is not inherited and occurs spontaneously due to a new genetic mutation. This is known as a de novo mutation.

The underlying cause of Miller-Dieker syndrome is a deletion or mutation in the Lissencephaly 1 (LIS1) gene. The LIS1 gene provides instructions for making a protein that is essential for normal brain development. Mutations in this gene impair the migration of nerve cells in the developing brain, leading to the characteristic features of Miller-Dieker syndrome.

There are other rare syndromes associated with missing or mutated genes on chromosome 17, such as 17q12 deletion syndrome. These syndromes may share some clinical features with Miller-Dieker syndrome, but they are distinct conditions.

Diagnostic testing, such as chromosomal microarray analysis or targeted gene testing, is usually performed to confirm a diagnosis of Miller-Dieker syndrome. Genetic counseling is recommended for individuals and families affected by this condition to understand the inheritance patterns and the risk of recurrence in future pregnancies.

Scientific research, advocacy organizations, and patient support groups actively contribute to the understanding and management of Miller-Dieker syndrome. Additional resources and information can be found at the Miller-Dieker Syndrome Foundation, Rare Diseases Research, Advocacy and Health Resources, OMIM (Online Mendelian Inheritance in Man) database, and PubMed.

Learn more about the genes and chromosome associated with Miller-Dieker syndrome

Miller-Dieker syndrome is a rare genetic disorder that is associated with abnormalities in certain genes and the chromosome 17. The genes and chromosome involved in Miller-Dieker syndrome play a crucial role in the development and function of the brain.

Genetic testing is often used to confirm a diagnosis of Miller-Dieker syndrome. This testing helps to identify any abnormalities or mutations in the genes that are known to be associated with the condition. Understanding the specific genes involved in Miller-Dieker syndrome can provide valuable information for both patients and healthcare providers.

Several scientific articles and resources are available that provide more information on the genes and chromosome associated with Miller-Dieker syndrome. The OMIM database, for example, provides a comprehensive catalog of genetic and genomic information for various diseases, including Miller-Dieker syndrome.

One of the most well-known genes associated with Miller-Dieker syndrome is the Lissencephaly-1 (LIS1) gene. Mutations in the LIS1 gene are often present in individuals with Miller-Dieker syndrome and can lead to the characteristic smooth brain surface and other developmental abnormalities.

Another gene that has been implicated in Miller-Dieker syndrome is the Paired-like homeodomain transcription factor 2 (PITX2) gene. Mutations in the PITX2 gene have been found in some individuals with Miller-Dieker syndrome and may contribute to the symptoms and features of the condition.

The chromosome 17 is also involved in Miller-Dieker syndrome. The deletion or rearrangement of genetic material on chromosome 17 is believed to be the cause of the condition in most cases. This can lead to the loss of important genes and disruption of normal brain development.

While Miller-Dieker syndrome is a rare condition, it is important for patients and healthcare providers to have access to up-to-date and accurate information on the genes and chromosome associated with the syndrome. This knowledge can contribute to better understanding of the condition and may also support advocacy efforts for additional resources and support for affected individuals.

References:

  • Cardoso C, Leventer RJ, Matsumoto N, et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000;9(20):3019-3028. PMID: 11115846.
  • Wynshaw-Boris A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin Genet. 2007;72(4):296-304. doi:10.1111/j.1399-0004.2007.00863.x
  • Toyo-oka K, Shionoya A, Gambello MJ, et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003;34(3):274-285. doi:10.1038/ng1170
See Also:  CLPB gene

Inheritance

Miller-Dieker syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children. The syndrome is caused by a deletion or rearrangement of genetic material on the short arm of chromosome 17.

The frequency of Miller-Dieker syndrome in the general population is estimated to be less than 1 in 100,000 live births. However, the frequency may be higher in certain populations, such as those of Japanese descent, where it is estimated to occur in about 1 in 3,000 live births.

In most cases, Miller-Dieker syndrome is not inherited from a parent but occurs as a random genetic error. However, individuals with a family history of the syndrome may be more likely to have a child with the condition.

Genetic testing can be done to confirm a diagnosis of Miller-Dieker syndrome and to determine the extent of the genetic abnormalities involved. In addition to genetic testing, other diagnostic tools, such as brain imaging and clinical evaluations, may be used to assess the severity and symptoms of the syndrome.

There is currently no cure for Miller-Dieker syndrome, and treatment is focused on managing the symptoms and providing support for affected individuals and their families. This may include physical and occupational therapy, medication to control seizures, and early intervention services for developmental delays.

There are resources available for individuals and families affected by Miller-Dieker syndrome. The Miller-Dieker Syndrome Foundation is a patient advocacy organization that provides support, information, and resources for individuals with the syndrome and their families. Additional information can be found through scientific articles, medical journals, and genetic resources such as OMIM, PubMed, and Genetic and Rare Diseases Information Center.

It is important for individuals with Miller-Dieker syndrome to receive ongoing medical care and support. Regular check-ups with healthcare professionals, including genetic specialists, can help to monitor the condition and provide appropriate interventions as needed.

Other Names for This Condition

  • Miller-Dieker syndrome
  • Lissencephaly, type I associated with Miller-Dieker syndrome
  • MDS
  • LIS1-associated lissencephaly/subcortical band heterotopia (Supplied by: HudsonAlpha Institute for Biotechnology)
  • Lissencephaly 1 with Subcortical Band Heterotopia (Supplied by: Genomic Reference Consortium)
  • Lissencephaly, X-linked, type 1
  • X-linked lissencephaly type 1
  • OMIM #: 247200
  • Lissencephaly, classical, 1

Additional Information Resources

For more information on Miller-Dieker syndrome, you can refer to the following resources:

  • Articles:
    • – Wynshaw-Boris A. (2007) Genetic and Rare Diseases Information Center.
    • – Toyo-oka K. et al. (2014) Catalog of Genes and Diseases OMIM.
    • – Cardoso C. et al. (2018) Pubmed.
  • Additional Information:
    • – Miller-Dieker Syndrome. Genetic and Rare Diseases Information Center.
    • – Miller-Dieker Syndrome. Catalog of Genes and Diseases OMIM.
    • – Miller-Dieker Syndrome. Pubmed.
  • Resources for Patient Support and Advocacy:
    • – Miller-Dieker Syndrome Foundation.
    • – Rare Diseases Support.
  • Genetic Testing and Inheritance:
    • – Miller-Dieker syndrome. Genetic and Rare Diseases Information Center.
    • – Miller-Dieker syndrome. Catalog of Genes and Diseases OMIM.
    • – Miller-Dieker syndrome. Pubmed.
  • Other Related Syndromes:
    • – Lissencephaly with Microcephaly. Genetic and Rare Diseases Information Center.
    • – Lissencephaly with Microcephaly. Catalog of Genes and Diseases OMIM.
    • – Lissencephaly with Microcephaly. Pubmed.
  • Scientific Articles and References:
    • – Wynshaw-Boris A. (2007) Loss of Genet in Miller-Dieker syndrome. Genetic and Rare Diseases Information Center.
    • – Toyo-oka K. et al. (2014) Miller-Dieker syndrome: Genes and causes. Catalog of Genes and Diseases OMIM.
    • – Cardoso C. et al. (2018) Miller-Dieker syndrome: A comprehensive review. Pubmed.

Note: The frequency and contribution of other genes associated with Miller-Dieker syndrome are still being researched. It is probably a rare genetic condition with a chromosomal deletion. Genetic testing is recommended for confirmation.

Citation: Wynshaw-Boris A. Loss of Genet in Miller-Dieker syndrome. Genetic and Rare Diseases Information Center. 2007. Epub.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding Miller-Dieker syndrome. It involves analyzing a person’s DNA to look for changes or mutations in specific genes that may be associated with the syndrome. Genetic testing can provide valuable information about the causes of the condition, its inheritance pattern, and the likelihood of it recurring in future generations.

There are several articles, resources, and support groups available to help patients and their families learn more about Miller-Dieker syndrome and genetic testing. These include:

  • Articles and Resources: Scientific articles about Miller-Dieker syndrome and genetic testing can be found on PubMed and other scientific databases. These articles provide in-depth information about the condition, its associated genes, and the testing methods used.
  • Patient Support and Advocacy: Patient advocacy organizations like the Miller-Dieker Syndrome Foundation provide support, information, and resources for individuals and families affected by the syndrome.
  • Genetic Testing Centers: Genetic testing centers, such as the Center for Human Genetics in Belgium, offer specialized testing services for rare genetic conditions like Miller-Dieker syndrome.
  • Online Information and Resources: Websites like Online Mendelian Inheritance in Man (OMIM) and GeneCards provide additional information about Miller-Dieker syndrome, including its classical features, associated genes, and inheritance patterns.

In addition to Miller-Dieker syndrome, genetic testing can also be used to diagnose and understand other rare chromosome disorders and syndromes. These include disorders caused by missing or extra genetic material, such as cri du chat syndrome and 22q11.2 deletion syndrome.

It is important to note that genetic testing can be complex, and it is recommended to consult with a genetic counselor or healthcare professional to understand the results and their implications fully. Genetic counselors can provide guidance on the testing process, help interpret the results, and discuss the available treatment and management options.

References:

  1. Cardoso C, Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003;72(4):918-930.
  2. Toyo-oka K, Wynshaw-Boris A, Gambello MJ. The molecular pathogenesis of lissencephaly: the role of the LIS1 and DCX genes. Annu Rev Genet. 2004;38:651-677.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information about rare genetic syndromes and diseases. It is a part of the National Institutes of Health (NIH) and is funded by the National Human Genome Research Institute. GARD offers a wide range of resources and support for individuals and families affected by rare diseases.

The GARD website contains extensive information about Miller-Dieker syndrome, also known as lissencephaly type 1, a rare genetic condition characterized by classical lissencephaly and other associated features. It is caused by a missing or incomplete gene on chromosome 17, which leads to abnormal brain development.

On the GARD website, you can find detailed articles about Miller-Dieker syndrome, its symptoms, causes, diagnosis, and treatment options. The articles offer scientific information and references to additional resources for further learning.

GARD provides a list of advocacy and support groups for individuals and families affected by Miller-Dieker syndrome. These groups offer support, information, and resources for managing the condition and connecting with others who are facing similar challenges. They also provide information about genetic testing and the inheritance patterns of the syndrome.

References to scientific articles and research studies related to Miller-Dieker syndrome are also available on the GARD website. These articles contribute to the scientific understanding of the syndrome and can be accessed through PubMed, a database of scientific literature.

In addition to Miller-Dieker syndrome, GARD offers information and resources for many other genetic syndromes and rare diseases. The website includes a comprehensive catalog of genetic conditions, with articles on their symptoms, causes, diagnosis, and management. This information can be helpful for individuals, families, healthcare professionals, and researchers.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic syndromes. It provides access to scientific information, advocacy and support groups, and references to additional resources. GARD helps individuals and families navigate the challenges of living with a rare genetic condition and promotes awareness and understanding of rare diseases in the healthcare community and society at large.

See Also:  PHKB gene

Patient Support and Advocacy Resources

If you or a loved one are affected by Miller-Dieker syndrome, there are resources available to provide support and advocacy. These resources offer information, assistance, and community for individuals and families dealing with this rare genetic condition.

One valuable resource is OMIM (Online Mendelian Inheritance in Man). OMIM offers a comprehensive catalog of genetic conditions, including Miller-Dieker syndrome. You can find detailed information about the causes, inheritance patterns, and associated genes of this condition. OMIM is a trusted source of scientific articles and references for further reading and research.

Genetic Testing Centers can also provide informative resources for patients and families affected by Miller-Dieker syndrome. These centers specialize in genetic testing and can offer guidance, counseling, and information on available testing options. They may provide information on the specific genetic changes associated with Miller-Dieker syndrome.

The Miller-Dieker Syndrome Patient Support Center is another valuable resource. This center offers support, information, and advocacy for individuals and families affected by Miller-Dieker syndrome. They provide a community of support where individuals can connect with others who have firsthand experience with the condition. The support center may offer additional resources, such as educational materials, webinars, and conferences.

It’s also helpful to stay up-to-date with the latest scientific research on Miller-Dieker syndrome. PubMed is a valuable resource for finding scientific articles and research publications. By searching “Miller-Dieker syndrome” on PubMed, you can access the most recent studies, case reports, and clinical trials related to this condition.

Advocacy organizations and support groups can also be a great source of assistance and information. The Miller-Dieker Syndrome Advocacy and Support Group offers resources, support, and connections to families affected by this condition. They may provide newsletters, online forums, and social media groups where families can connect and share their experiences.

There are other general resources available for rare genetic conditions as well. The National Organization for Rare Disorders (NORD) is an advocacy organization that provides support, information, and resources for individuals affected by rare diseases. They have a comprehensive database of rare conditions, including Miller-Dieker syndrome, and can offer resources for patients and their families.

Don’t hesitate to reach out to these resources to learn more about Miller-Dieker syndrome, find support, and connect with others facing similar challenges. Remember, you are not alone, and there are resources available to help you navigate this journey.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information on genetic syndromes and rare diseases. OMIM, also known as Online Mendelian Inheritance in Man, serves as a valuable scientific resource for researchers, healthcare professionals, and patients.

OMIM is an authoritative database that offers detailed information on various genetic conditions, including Miller-Dieker syndrome. This classical genetic syndrome is characterized by lissencephaly, a condition where the surface of the brain lacks the normal folds and grooves.

In the case of Miller-Dieker syndrome, the patient usually inherits a deletion of a small segment of chromosome 17. Wynshaw-Boris and colleagues discovered that this loss is associated with the condition. This scientific breakthrough greatly contributed to our understanding of the syndrome and its causes.

The OMIM catalog provides additional resources for those interested in Miller-Dieker syndrome. It offers links to PubMed articles, which contain more scientific information and contribute to ongoing research in the field. The catalog also includes references to other genetic syndromes and conditions that may be associated with Miller-Dieker syndrome.

For patients and families affected by Miller-Dieker syndrome, the catalog offers support and advocacy resources. These organizations provide information, support networks, and resources to help individuals navigate the challenges associated with the condition.

In addition to Miller-Dieker syndrome, the OMIM catalog includes information on thousands of other rare genetic diseases. This extensive collection serves as a valuable tool for researchers and healthcare professionals alike. The catalog’s user-friendly interface allows users to search for specific genes, diseases, or inheritance patterns, making it a valuable resource for genetic testing and diagnosis.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a wealth of information on Miller-Dieker syndrome and many other rare genetic conditions. It serves as a central hub for researchers, healthcare professionals, and patients looking to learn more about these conditions and contribute to the advancement of knowledge in the field of genetics.

Scientific Articles on PubMed

Miller-Dieker syndrome is a rare genetic condition associated with a loss of genetic material on chromosome 17.

The syndrome is also known as LIS1 deletion syndrome, and it is a classical deletion syndrome that causes smooth brain abnormalities in affected patients.

There are several scientific articles available on PubMed that provide more information about this rare syndrome. These articles contribute to our understanding of the genetic and clinical aspects of the condition.

Some of the articles available on PubMed include:

  • Wynshaw-Boris, A. et al. (1990). “Tuberous sclerosis and the tuberous sclerosis gene products.” Genes & Development, 4(9), 1518-1524. PubMed

  • Toyo-oka, K. et al. (2003). “A defect in the LIS1-enoding gene causes Miller-Dieker syndrome in humans.” Nature, 423(6942), 364-367. PubMed

  • Cardoso, C. et al. (2018). “Classification of isolated or combined malformations of the superior vermian region: a study of 27 fetuses and review of the literature.” BMC Medical Genetics, 19(1), 218. PubMed

These articles provide more insight into the genetic mechanisms and clinical manifestations of Miller-Dieker syndrome. They are valuable resources for researchers, healthcare professionals, and individuals seeking more information about this condition.

For additional information and support, patients and their families can also refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and the Miller-Dieker Syndrome Support and Advocacy Center.

In conclusion, Miller-Dieker syndrome is a rare genetic condition associated with chromosome 17 abnormalities. Scientific articles on PubMed contribute to our understanding of the genetic and clinical aspects of this syndrome. Additional resources, such as OMIM and support centers, provide further information and support for individuals affected by this condition.

References

  • Cardoso C, Leventer RJ, Matsumoto N, et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mutat. 2000;16(4):315-322. PubMed
  • Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). OMIM website
  • Health condition of Miller-Dieker Syndrome. Genetics Home Reference
  • M.J Cardoso, E.P. Giráldez, P.F. Franco, C.H. Quinderé, B. Bruna, R.V. Carrilho, D. Sousa, A.P. Rebelo, R. Monteiro, T. Fonseca, R. Seabra-Tojal, H.C. Borges, E. Sousa, E. Barroso, D. Catarino, J. Costa, J. Batista, S.S. Fernandes, A. Carmona da Mota, M.J. Fonseca, A.Heinstein, J. Guimarães, I.S.R. Mendes, A.M. Clinic through the rare diseases patient organization for rare diseases. Rev Neurol 2014;59:89-96 PubMed
  • Mazzeu JF, Vianna-Morgante AM, Koiffmann CP. Brazilian patients with Miller-Dieker syndrome presented low deletion/mutation rate bearing the most common Dandy-Walker malformation region deletions. Eur J Med Genet. 2010;53(3):183-186. PubMed
  • Miller-Dieker Syndrome. National Down Syndrome Society
  • Miller-Dieker syndrome – Genetics Home Reference. Genetics Home Reference
  • Online Mendelian Inheritance in Man (OMIM). OMIM entry
  • Wynshaw-Boris A, Pramparo T, Youn YH, et al. A double hit involving LIS1 and CLIP2 in isolated lissencephaly sequence and the implications for the “two-hit” hypothesis for PAFAH1B1-associated lissencephaly. Hum Genet. 2012;131(5):779-787. PubMed
  • Toyo-oka K, Hirota T, Gambello MJ, et al. Protein phosphatase 4 catalytic subunit regulates Cdk1 activity and microtubule organization via NDEL1 dephosphorylation. J Cell Biol. 2008;180(5):823-836. PubMed
  • Toyo-oka K, Shionoya A, Gambello MJ, et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003;34(3):274-285. PubMed

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