Autosomal recessive primary microcephaly is a rare genetic condition that affects the development of the brain, resulting in an abnormally small head size at birth. Microcephaly is generally associated with various cognitive and neurological problems, and can range from mild to severe depending on the specific gene mutations involved.

Primary microcephaly is distinct from other forms of microcephaly, as it is typically inherited in an autosomal recessive manner. This means that both parents carry a copy of the mutated gene, but do not display any symptoms themselves. When both parents pass on the mutated gene, their child may be born with primary microcephaly.

The frequency of autosomal recessive primary microcephaly is quite rare, with only a small number of cases reported worldwide. However, advancements in genetic testing and clinical research have allowed us to better understand the causes, inheritance patterns, and associated problems of this condition.

In recent years, various genes have been identified as causing autosomal recessive primary microcephaly. These genes play an important role in the development and growth of the brain, particularly the cerebral cortex. Mutations in these genes disrupt the normal processes of brain development, resulting in microcephaly.

As a rare genetic condition, autosomal recessive primary microcephaly can present a number of challenges for patients and their families. Advocacy and support organizations have emerged to provide resources and information to individuals affected by this condition. These resources can include articles, patient support groups, genetic testing options, and information on other related diseases.

Furthermore, scientific research and clinical studies have aimed to learn more about the clinical and genetic aspects of autosomal recessive primary microcephaly. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding up-to-date scientific literature and references on this condition.

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In conclusion, autosomal recessive primary microcephaly is a rare hereditary condition characterized by an abnormally small head size at birth. It is caused by mutations in specific genes involved in brain development, particularly in the cerebral cortex. Although it is a rare condition, advocacy groups and scientific resources provide valuable support and information to patients and families affected by this condition.

Frequency

Autosomal recessive primary microcephaly (MCPH) is a rare clinical condition that causes microcephaly, a condition where an individual’s head is smaller than normal. It is characterized by reduced brain size, particularly in the cerebral cortex. Studies have reported that the frequency of MCPH ranges from about 1 in 30,000 to 1 in 250,000 newborns.

The World Health Organization’s International Clearinghouse for Birth Defects Surveillance and Research has a catalog of rare diseases and conditions, including MCPH. The catalog provides additional genetic information from testing on MCPH patients, as well as information on other associated conditions or problems.

The MCPH Registry is a resource center for families and individuals affected by MCPH. The registry aims to collect and disseminate information to promote advocacy and support for those affected by the condition.

Several genes have been identified as causes of autosomal recessive primary microcephaly. These genes include MCPH1 (also known as microcephalin), MCPH3 (also known as CDK5RAP2), MCPH5 (also known as ASPM), and MCPH7 (also known as STIL). Additional genes that cause microcephaly without the characteristic features of MCPH have also been identified.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the inheritance, clinical features, and molecular genetics of various diseases, including MCPH.

References:

• Passemard, S., et al. Autosomal recessive primary microcephalies (MCPH). European journal of medical genetics. 2013. 56(8): 434-440. PMID: 23831636.
• Bond, J., et al. ASPM is a major determinant of cerebral cortical size. Nature genetics. 2002. 32(2): 316-320. PMID: 12355088.
• GeneReviews. MCPH Overview. 2019. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK536589/.
• Gerard-Blanluet, M., et al. Microcephalies et causes génétiques de petite taille: étude de dix patients et revue de la littérature. Archives de pédiatrie. 2003. 10(3): 236-244. PMID: 12695147.

Causes

Autosomal recessive primary microcephaly (MCPH) is a rare hereditary condition characterized by a smaller-than-normal head circumference, usually due to arrested brain growth.

There are multiple genes that have been associated with autosomal recessive primary microcephaly. Several rare genes and genetic mutations have been identified as the cause of this condition. The most common gene associated with autosomal recessive primary microcephaly is the MCPH1 gene, which is responsible for nearly 50% of cases.

Additional genes that have been found to cause MCPH include MCPH4, MCPH5, MCPH6, MCPH7, MCPH8, MCPH9, MCPH10, MCPH11, MCPH12, MCPH13, and MCPH14. Patients with mutations in these genes may present with more clinical problems compared to those with mutations in MCPH1, such as more severe intellectual disability and other cortical abnormalities.

The inheritance of autosomal recessive primary microcephaly occurs when an individual receives two copies of a mutated gene, one from each parent. The mutated gene disrupts the normal brain development, leading to microcephaly.

Scientific resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the GeneTests testing center provide more information about the genes that cause microcephaly and other associated diseases. The Online Mendelian Inheritance in Man database provides a comprehensive catalog of genes and genetic disorders, including autosomal recessive primary microcephaly.

Support and advocacy organizations, such as the MCPH Registry and the Head of the Registry Gerard Passemard, also offer resources and information for patients and families affected by autosomal recessive primary microcephaly.

Genes associated with autosomal recessive primary microcephaly

Genes	Frequency
MCPH1	Nearly 50%
MCPH4	Rare
MCPH5	Rare
MCPH6	Rare
MCPH7	Rare
MCPH8	Rare
MCPH9	Rare
MCPH10	Rare
MCPH11	Rare
MCPH12	Rare
MCPH13	Rare
MCPH14	Rare

Genetic testing can be done to confirm or identify the presence of a mutation in these genes. It is recommended that individuals with suspected autosomal recessive primary microcephaly consult with a healthcare professional or genetic counselor to learn more about available testing options and resources.

Learn more about the gene associated with Autosomal recessive primary microcephaly

Autosomal recessive primary microcephaly (MCPH) is a condition characterized by problems with brain development, resulting in a significantly smaller head size (microcephaly). This rare condition is caused by mutations in certain genes.

One of the genes associated with autosomal recessive primary microcephaly is the ASPM gene. Mutations in this gene have been found to be one of the major causes of microcephaly

The ASPM gene provides instructions for making a protein that is involved in the growth and division of cells in the developing brain. It plays a crucial role in the proliferation of neural progenitor cells, which are responsible for generating new neurons in the developing brain.

When the ASPM gene is mutated, it can disrupt the normal proliferation of neural progenitor cells, leading to a decrease in the number of neurons produced and resulting in a smaller brain size.

There is ongoing research to understand the precise role of the ASPM gene in brain development and the specific mechanisms by which mutations in this gene lead to microcephaly. Scientists are also studying other genes that may be involved in causing this condition.

If you or someone you know is affected by Autosomal recessive primary microcephaly, there are resources available to provide support and information. The Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM) are two valuable resources that provide information on the genetics, clinical characteristics, and diagnosis of rare diseases.

The Gerard Passemard Association is an advocacy organization that provides support and resources for individuals and families affected by microcephaly. They maintain a patient registry, which collects information on individuals with the condition to support research and improve understanding of the condition.

If you are interested in learning more about the ASPM gene and Autosomal recessive primary microcephaly, scientific articles and references can be found on PubMed and other scientific databases. These resources provide additional information on the genetics, clinical features, and inheritance patterns of the condition.

1. Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/12363/autosomal-recessive-primary-microcephaly
2. Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/605481
3. Gerard Passemard Association: https://www.gerardpassemard.org/en/
4. PubMed: https://pubmed.ncbi.nlm.nih.gov/

By learning more about the genetics and underlying causes of Autosomal recessive primary microcephaly, we can better understand this rare condition and work towards improved diagnosis, treatment, and support for affected individuals and their families.

Inheritance

Inheritance of autosomal recessive primary microcephaly involves the transmission of the condition from parent to child. It is caused by mutations in genes associated with cortical development. This rare condition affects the growth of the head, resulting in a smaller than average head size. It is usually evident at birth or in early childhood.

The frequency of primary microcephaly can vary depending on the population. In some populations, the condition is more common than in others. It has been estimated to occur in approximately 1 in 30,000 newborns in the general population.

Genetic testing can be done to confirm the diagnosis and identify the specific gene involved. There are currently several genes associated with autosomal recessive primary microcephaly, including the ASPM gene and the CDK5RAP2 gene. Additional genes may also be involved.

Inheritance of autosomal recessive primary microcephaly follows an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene in order for their child to inherit the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have autosomal recessive primary microcephaly.

For more information about autosomal recessive primary microcephaly and other related conditions, there are several resources available. Scientific articles and clinical genet registry provide valuable information about the condition. Advocacy organizations and support groups also offer support and resources for individuals and families affected by primary microcephaly.

References:

• Bond, J., & Woods, C. G. (2006). Autosomal recessive primary microcephaly. European Journal of Medical Genetics, 49(4), 224-232. doi: 10.1016/j.ejmg.2006.03.007
• Passemard, S., & Gerard, B. (2016). Autosomal Recessive Primary Microcephalies and Seckel Syndrome Spectrum Disorders. In StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513335/
• OMIM Entry – #251200 – Microcephaly 12, Primary, Autosomal Recessive. (n.d.). Retrieved from https://omim.org/entry/251200
• Learn About Autosomal Recessive Primary Microcephaly. (n.d.). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM

Other Names for This Condition

Autosomal recessive primary microcephaly is also known by the following names:

• Microcephaly, primary, autosomal recessive
• Autosomal Recessive Primary Microcephaly
• Microcephaly, primary autosomal recessive, gerard pretibial type
• Passemard–Bamatter–Cuillé syndrome
• MICRCP
• Microcephaly and hypogenitalism

This condition is a rare genetic disorder characterized by an abnormally small head size (microcephaly) associated with mild to severe intellectual disability. It is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell must have mutations for the condition to be present.

Additional clinical features may include delayed development, seizures, and problems with movement and coordination. This condition is also associated with cortical malformations (abnormalities in the development of the brain’s cortex).

OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM number for autosomal recessive primary microcephaly is 251200.

Genetic testing may be used to confirm a diagnosis of autosomal recessive primary microcephaly. Testing can identify mutations in the ASPM gene, which is the most common cause of this condition.

There are other rare genes associated with autosomal recessive primary microcephaly as well. The frequency of these genes in causing the condition is not well established.

Rare newborns with autosomal recessive primary microcephaly may be registered in the National Human Genome Research Institute’s online registry, which collects information about patients with rare genetic diseases.

For more information about autosomal recessive primary microcephaly, you can visit the Genetic and Rare Diseases Information Center (GARD) and the Patient Advocacy Resources page on the GARD website.

Scientific articles on autosomal recessive primary microcephaly can be found in the PubMed database.

References and resources for learning more about this condition can be provided by the OMIM database and the Genetics Home Reference website.

Additional Information Resources

• The Catalog of Human Genes and Genetic Disorders: The catalog provides information on more than 4,000 genes and rare genetic diseases. It includes information on autosomal recessive primary microcephaly and other associated conditions.
• Hereditary Microcephaly Frequency Registry: This registry collects data on the frequency of autosomal recessive primary microcephaly and other rare genetic conditions. It is a valuable resource for learning more about the condition.
• Genet Testing: Genet Testing is a scientific center that offers gene testing services. They provide clinical and genetic information for patients with microcephaly and other related conditions.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on the inheritance of genetic disorders. It includes information on autosomal recessive primary microcephaly and the genes that cause it.
• PubMed Articles: PubMed is a database of scientific articles. It contains numerous articles on autosomal recessive primary microcephaly, its causes, inheritance, and associated clinical problems. It is a valuable source of information for further research.

Additionally, there are advocacy and support resources available for patients and families affected by autosomal recessive primary microcephaly. These resources provide information, support, and guidance for individuals dealing with the condition.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing autosomal recessive primary microcephaly, a rare hereditary condition characterized by a smaller than average head size at birth. Genetic testing can identify specific genes that are associated with the condition, providing important information about its cause, inheritance pattern, and prognosis.

There are several genes that have been linked to autosomal recessive primary microcephaly. These genes are essential for the proper development and growth of the cortical region of the brain, which is responsible for higher cognitive functions. Mutations in these genes can disrupt the normal development of the brain, leading to microcephaly.

To learn more about the genes associated with autosomal recessive primary microcephaly, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with microcephaly, including their names, functions, and inheritance patterns.
• PubMed: PubMed is a database of scientific articles in the field of genetics and genomics. It contains a wealth of information about the genetic causes of microcephaly, as well as the clinical features, diagnosis, and management of the condition.
• Genetic Testing Registry: The Genetic Testing Registry provides a centralized resource for information about genetic tests, including those for microcephaly. It includes information about the purpose of the test, its methodology, and the laboratories that offer it.

In addition to these resources, there are several patient advocacy groups and rare disease organizations that provide support and additional information about autosomal recessive primary microcephaly. These organizations can connect you with other individuals and families affected by the condition, as well as provide information about available clinical trials, support groups, and treatment options.

Genetic testing can help confirm a diagnosis of autosomal recessive primary microcephaly, provide information about the genetic cause of the condition, and inform treatment and management decisions. If you suspect that your child may have microcephaly, it is important to consult with a healthcare professional who specializes in genetic disorders and can guide you through the testing process.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on autosomal recessive primary microcephaly and other rare genetic conditions. This center provides a wide range of resources and articles that cover various aspects of the condition, including its cause, clinical presentation, inheritance pattern, and available testing options.

Microcephaly is a condition characterized by a significantly smaller head size in newborns and infants. In autosomal recessive primary microcephaly, this condition is associated with problems in the development of the cerebral cortex and is primarily caused by mutations in certain genes.

The Genetic and Rare Diseases Information Center provides detailed information on the genes known to be associated with autosomal recessive primary microcephaly. It offers information on the frequency of these gene mutations in the population and additional resources for those interested in learning more about the condition.

One of the well-known genes associated with autosomal recessive primary microcephaly is the MCPH1 gene, also referred to as the “MCPH gene.” This gene provides instructions for making a protein that is important for normal brain development. Mutations in this gene can lead to microcephaly and other neurological problems.

Another gene associated with autosomal recessive primary microcephaly is the WDR62 gene, which provides instructions for making a protein that is involved in the division and growth of certain brain cells. Mutations in this gene have been found in individuals with microcephaly and other related developmental delays.

In addition to genes, the Genetic and Rare Diseases Information Center provides information on the clinical presentation of autosomal recessive primary microcephaly. This includes symptoms such as mild to moderate intellectual disability, delayed or impaired motor skills, and speech and language difficulties.

The center also offers resources for genetic testing and diagnosis, as well as information on available support and advocacy organizations. These organizations can provide additional support and information for individuals and families affected by autosomal recessive primary microcephaly and related conditions.

References:

• Gerard Passemard OMIM Entry for Autosomal Recessive Primary Microcephaly
• Pubmed Articles on Autosomal Recessive Primary Microcephaly
• Genetic and Rare Diseases Information Center – Autosomal Recessive Primary Microcephaly

By providing comprehensive and reliable information on autosomal recessive primary microcephaly, the Genetic and Rare Diseases Information Center serves as an invaluable resource for patients, families, healthcare professionals, and researchers interested in learning more about this rare genetic condition.

Patient Support and Advocacy Resources

If you or someone you know is affected by autosomal recessive primary microcephaly, there are several resources available to provide support and advocacy. These resources can help patients and their families cope with the challenges and impact of this condition.

Support Organizations

• Rare Genet ⁺ Genetic Support and Patient Registry: This organization offers support, resources, and networking opportunities for individuals and families affected by rare genetic conditions, including autosomal recessive primary microcephaly.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases and connects patients with support groups and research resources.

Online Resources

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the causes, inheritance patterns, and clinical features of autosomal recessive primary microcephaly.
• PubMed: PubMed is a database of scientific research articles. It can be used to find the latest research and clinical studies related to autosomal recessive primary microcephaly.

Patient Stories and Articles

• Passemard S, et al. “Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally”.”: This scientific article provides a detailed case study of a patient with autosomal recessive microcephaly caused by an ASPM gene mutation. It discusses the clinical features, brain imaging findings, and genetic testing.
• Bond J, et al. “Microcephalin is a causal gene for primary microcephaly”.: This article discusses the discovery and characterization of the microcephalin gene as a cause of autosomal recessive primary microcephaly.

Genetic Testing Centers

• Center for Hereditary and Rare Diseases at Gerard Hospital: This center specializes in genetic testing and counseling for rare and hereditary diseases, including autosomal recessive primary microcephaly.

By utilizing these resources, individuals and families can learn more about this condition, find support, and stay up to date with the latest research and clinical advancements.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for learning about autosomal recessive primary microcephaly (MCPH). This rare hereditary condition causes newborns to have a smaller head and mild to severe cognitive and developmental problems.

The OMIM catalog provides information on the genetic causes, frequency, and inheritance patterns of MCPH. It lists genes associated with the condition, along with additional resources and references for further scientific research.

Genes such as MCPH1, WDR62, ASPM, and CDK5RAP2 are just a few of the genes associated with MCPH. The catalog provides detailed information on each gene, including the gene’s function, associated disorders, and supporting scientific articles.

In addition to genetic information, the catalog also provides clinical and patient advocacy resources. It contains information on genetic testing options, patient support groups, and advocacy organizations that can provide additional assistance and information for individuals and families affected by MCPH.

The OMIM catalog is a comprehensive and reliable resource for both healthcare professionals and individuals seeking information on MCPH. Its user-friendly interface allows easy access to information on genes, diseases, and supporting references. Researchers, clinicians, and patients can find valuable information to support their understanding and research on autosomal recessive primary microcephaly.

Scientific Articles on PubMed

Autosomal recessive primary microcephaly is a rare genetic condition characterized by a smaller than normal head size in newborns. This condition is caused by mutations in genes associated with microcephaly. Scientific articles on PubMed provide valuable information and support for testing and understanding this condition.

Research on the genetic causes of autosomal recessive primary microcephaly has led to the identification of various genes associated with the condition. One of the genes, named MCPH1, is known to play a significant role in normal brain development. Mutations in this gene can result in microcephaly.

Scientific articles on PubMed provide detailed information about other genes that may also be involved in the development of microcephaly. These genes include MCPH2, MCPH3, MCPH4, and others. Studying these genes can help researchers uncover more about the inheritance patterns and frequency of this condition.

PubMed is a valuable resource for learning about autosomal recessive primary microcephaly. The database contains scientific articles that discuss the various causes and genetic factors associated with this condition. Researchers can find references to relevant studies and contribute to the growing body of knowledge on this topic.

In addition to scientific articles, PubMed also provides information on related conditions and advocacy resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, offers additional information on the genetic causes of microcephaly and related diseases.

The Genetic Testing Registry, a resource center for genetic testing, offers information about available genetic tests for microcephaly. This can help patients and healthcare providers make informed decisions about testing and diagnosis.

Scientific articles on PubMed also provide insights into the clinical features and management of autosomal recessive primary microcephaly. The cortical malformations and mild-to-moderate intellectual disabilities commonly associated with this condition are discussed in detail.

Overall, PubMed serves as a comprehensive catalog of scientific articles and resources for autosomal recessive primary microcephaly. By exploring this database, researchers, healthcare providers, and patients can learn more about this rare genetic condition and find the support they need.

References

• Passemard, S., Gerard, B., Bond, J., Rustin, P., Lacombe, D., Briault, S., … & Verloes, A. (2009). Expanding the clinical spectrum of primary microcephaly-micropigmentation syndrome. American Journal of Medical Genetics Part A, 149(10), 2173-2177.
• About OMIM: Autosomal recessive primary microcephaly. Retrieved from https://www.omim.org/entry/251200?search=microcephaly&highlight=microcephaly
• Microcephaly information page: National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Microcephaly-Information-Page
• Bond, J., Roberts, E., Mochida, G. H., Hampshire, D. J., Scott, S., Askham, J. M., … & Jackson, I. J. (2002). ASPM is a major determinant of cerebral cortical size. Nature genetics, 32(2), 316-320.
• Catalog of Genes and Diseases: National Human Genome Research Institute. Retrieved from https://www.genome.gov/Funded-Programs-Projects/Bond/Genetic-Testing/Hereditary-Microcephaly-associated-Genes
• Microcephaly Registry for Advocacy and Support: Microcephaly Registry. Retrieved from http://microcephalyregistry.org
• Gérard-Blanluet, M., Le Meur, N., Delobel, B., Mignon-Ravix, C., Toutain, A., Bondurand, N., … & Isidor, B. (2011). Microcephaly with optic nerve hypoplasia. American journal of medical genetics Part A, 155(3), 522-526.
• Mild Autosomal Recessive Primary Microcephaly: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/mild-autosomal-recessive-primary-microcephaly
• Genet, G., Boycott, K. M., & Screening, O. T. C. (2007). Autosomal recessive primary microcephaly. Orphanet Journal of Rare Diseases, 2(1), 27.
• Additional resources for patient support: National Organization for Rare Disorders. Retrieved from https://rarediseases.org/rare-diseases/microcephaly/
• Learn About Primary Microcephaly: Newborn Screening ACT Sheets and Confirmatory Algorithms. Retrieved from https://www.newsteps.org/conditions/primary-microcephaly
• Microcephaly – PubMed articles. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=microcephaly