The PNKP gene, also known as polynucleotide kinase 3′-phosphatase, is a crucial gene involved in various developmental processes. Mutations in this gene have been found to cause developmental delay, microcephaly, seizures, ataxia, and other neurological conditions. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which catalogs information on genetic diseases.
PNKP gene prevents the build-up of damaged nucleic acid strands in cells, which can lead to a variety of health issues. It plays a significant role in maintaining the stability and integrity of the cell’s genetic material. Mutations in this gene can lead to impaired repair of damaged DNA, which may contribute to the development of conditions such as ataxia and microcephaly.
PNKP gene has been the subject of numerous scientific studies, and articles related to this gene can be found on PubMed, a database of biomedical literature. Researchers have used genetic testing to identify specific variants in the PNKP gene that are associated with various neurological disorders. The PNKP gene has also been studied in relation to oculomotor apraxia, a condition characterized by difficulties in controlling eye movements.
There are several resources available for further information on the PNKP gene and its related conditions. These include scientific articles, genetic databases, and disease registries. By studying and understanding the role of the PNKP gene, researchers aim to develop improved diagnostic tests and potential treatments for individuals with PNKP gene-related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the PNKP gene are associated with various health conditions. Here, we discuss some of the diseases and symptoms related to these genetic changes.
Microcephaly: One of the conditions associated with genetic changes in the PNKP gene is microcephaly. This condition is characterized by a small head size and is often accompanied by developmental delays and intellectual disability.
Ataxia: Genetic changes in the PNKP gene can also lead to ataxia, a neurological disorder that affects movement and coordination. Individuals with ataxia may experience problems with balance, coordination, and fine motor skills.
Seizures: Some individuals with genetic changes in the PNKP gene may also experience seizures. Seizures are recurrent episodes of abnormal electrical activity in the brain that can cause temporary loss of consciousness and involuntary movements.
Other health conditions may also be related to variants in the PNKP gene. Additional diseases and symptoms associated with these genetic changes can be found in scientific articles and databases such as PubMed, OMIM, and Genet. Researchers and healthcare professionals can refer to these resources for more information on specific conditions related to the PNKP gene.
Genetic testing may be used to determine if a person has genetic changes in the PNKP gene. This testing involves analyzing the person’s nucleic acid or DNA from a blood or saliva sample. The results can help healthcare professionals diagnose and manage the associated health conditions.
It is important to note that this article provides only a brief overview of the health conditions related to genetic changes in the PNKP gene. For a more comprehensive understanding, we recommend consulting scientific literature, genetic testing resources, and healthcare professionals.
Ataxia with oculomotor apraxia
Ataxia with oculomotor apraxia is a condition characterized by problems with movement and coordination, as well as difficulty controlling eye movements (oculomotor apraxia). It is caused by changes in the PNKP gene.
The PNKP gene provides instructions for making a protein that is involved in repairing damaged DNA. This protein helps fix breaks in the DNA strand and prevents the buildup of unstable polynucleotide sequences, which can be toxic to cells.
When the PNKP gene is damaged or changes occur in its sequence, the protein it produces is unable to perform its normal function. This leads to an accumulation of DNA damage and a shortage of DNA repair capabilities in cells, particularly in the cerebellum, a region of the brain that coordinates movement.
As a result, individuals with ataxia with oculomotor apraxia may experience problems with movement and coordination, including ataxia (uncoordinated muscle movements), oculomotor apraxia (inability to control eye movements), and difficulties with balance and walking.
In addition to movement problems, individuals with this condition may also have symptoms such as microcephaly (unusually small head size), developmental delay, and seizures. The severity and combination of symptoms can vary widely between affected individuals.
Diagnosis of ataxia with oculomotor apraxia is typically confirmed through genetic testing. Testing for changes in the PNKP gene can be done using a variety of methods, such as targeted gene sequencing or whole exome sequencing. Additional tests, such as brain imaging or neurological examinations, may also be performed to assess the extent of brain and nerve damage.
Researchers continue to study the PNKP gene and its role in other conditions. Information about this gene and its associated disorders can be found in scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the GeneReviews catalog.
For individuals and families affected by ataxia with oculomotor apraxia, there are various resources available, such as support groups, advocacy organizations, and online forums. These resources can provide valuable information, support, and guidance on managing the condition and improving quality of life.
Microcephaly seizures and developmental delay
Microcephaly seizures and developmental delay are conditions that can be caused by genetic changes in the PNKP gene. The PNKP gene is involved in repairing damaged DNA strands and preventing seizures. When this gene is altered, it can lead to microcephaly, which is a condition characterized by a smaller than average head size, and developmental delay, which refers to a delay in reaching developmental milestones.
Researchers have found that changes in the PNKP gene can cause various conditions, including ataxia, a lack of muscle coordination, and oculomotor apraxia, which affects eye movement. Testing for genetic variants in the PNKP gene can be done using nucleic acid tests, such as polymerase chain reaction (PCR) or DNA sequencing. Information about these variants can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database.
Microcephaly seizures and developmental delay are listed as conditions related to the PNKP gene in these databases, and additional scientific articles and references can be found in PubMed and other scientific resources. These resources can provide researchers and health professionals with information about the gene and related conditions.
In individuals with microcephaly seizures and developmental delay, the cerebellum, which is the part of the brain involved in movement and coordination, may also be affected. The cerebellum is responsible for fine motor movement, balance, and muscle tone. When the PNKP gene is altered, it can lead to a shortage of PNKP protein, which prevents the proper repair of DNA strands and leads to the symptoms associated with microcephaly seizures and developmental delay.
Testing for genetic changes in the PNKP gene can be beneficial for individuals with microcephaly seizures and developmental delay, as it can provide a diagnosis and help guide treatment options. Researchers are continuously studying the PNKP gene and its role in diseases and conditions, and the information obtained from these studies can further enhance our understanding of this gene and its implications.
| Microcephaly | – Condition characterized by a smaller than average head size. |
| Developmental delay | – Refers to a delay in reaching developmental milestones. |
| PNKP gene | – Gene involved in repairing damaged DNA strands and preventing seizures. |
| Testing | – Nucleic acid tests can be done to test for genetic variants in the PNKP gene. |
| OMIM | – Online Mendelian Inheritance in Man database. |
| Databases | – Resources that provide information about genetic variants and related conditions. |
| Cerebellum | – Part of the brain involved in movement and coordination. |
| Ataxia | – Lack of muscle coordination. |
Other Names for This Gene
The PNKP gene is also known by other names, including:
- Polynucleotide Kinase 3′-phosphatase
- C-synaptic
- PNK
- PNKase
- Ataxia-oculomotor Apraxia 4
These alternative names reflect different aspects and functions of the PNKP gene in various conditions and diseases.
The PNKP gene plays a crucial role in repairing DNA damage and maintaining genomic stability. Changes in this gene can lead to developmental delays, microcephaly, and other neurological disorders.
One of the conditions associated with mutations in the PNKP gene is ataxia-oculomotor apraxia type 4 (AOA4). AOA4 is characterized by ataxia, oculomotor apraxia, and neurodegeneration. Individuals with this variant of the PNKP gene may also experience seizures, movement disorders, and other related symptoms.
Researchers and healthcare professionals use nucleic acid testing and other genetic tests to identify changes in the PNKP gene. These tests help diagnose and provide information about the conditions and diseases associated with PNKP gene mutations.
The PNKP gene is listed in various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information, articles, and references related to the PNKP gene and its role in health and disease.
Ongoing research aims to further understand the functions of the PNKP gene and its relationship to various neurological and developmental conditions. The identification of PNKP gene mutations can contribute to the development of targeted therapies and interventions for individuals affected by these disorders.
Additional Information Resources
Researchers and health professionals studying the PNKP gene and its related conditions can find additional information and resources from the following sources:
- PubMed: The articles published in scientific journals can provide valuable information on the PNKP gene and its functions. PubMed is an online database that allows researchers to quickly search for articles related to PNKP gene and associated disorders.
- Genetic Databases: Genetic databases like OMIM (Online Mendelian Inheritance in Man) and Genetests provide information on the PNKP gene, as well as other genes associated with ataxia, microcephaly, and developmental delay.
- Registry of PNKP-Related Conditions: There is a shortage of information on PNKP-related conditions, but researchers and health professionals may find some information in the registry of rare diseases or conditions associated with PNKP gene alterations.
- Catalog of Genetic Changes: A catalog of genetic changes, such as variants or mutations in the PNKP gene, can be helpful for researchers and clinicians studying the gene’s role in different conditions.
- Related Articles and References: In addition to PNKP gene, there are other genes like oculomotor apraxia and ataxia telangiectasia that are associated with similar conditions. Researchers can explore related articles and references to gain a better understanding of these conditions.
These resources can provide researchers, health professionals, and individuals seeking information on PNKP gene and related disorders with additional insights to enhance their understanding and knowledge.
Tests Listed in the Genetic Testing Registry
The PNKP gene is associated with various genetic conditions and diseases, including microcephaly, ataxia, and oculomotor apraxia. To determine if an individual has any changes or variants in the PNKP gene, genetic testing can be conducted. The Genetic Testing Registry is a valuable resource that provides information about different tests related to this gene.
Genetic testing involves analyzing a person’s genes, DNA, or nucleic acids to identify any alterations or abnormalities that may be present. These tests can be helpful in diagnosing conditions, predicting the risk of developing certain diseases, or determining the most effective treatment options.
In the context of the PNKP gene, the tests listed in the Genetic Testing Registry can provide important information for researchers, healthcare professionals, and individuals interested in understanding more about the gene and its associated conditions.
The Genetic Testing Registry catalog includes additional resources and references related to PNKP gene testing. It provides a comprehensive list of tests available, along with information about the specific conditions they can help diagnose or predict.
Some of the conditions that can be identified through PNKP gene testing include microcephaly, ataxia, oculomotor apraxia, and related diseases. These conditions are characterized by developmental delays, movement disorders, and possible cognitive impairments.
By consulting the Genetic Testing Registry, researchers and healthcare professionals can quickly find information about the available tests, their names, and the databases where this information is stored. The registry also provides references to scientific articles and publications on PNKP gene testing, making it a valuable tool for staying up-to-date with the latest research and discoveries in the field.
In summary, the Genetic Testing Registry offers a wealth of information about PNKP gene testing and the associated conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on PNKP gene-related diseases and testing options.
Scientific Articles on PubMed
Below is a list of scientific articles related to the PNKP gene and its role in various movement disorders and developmental conditions. These articles provide valuable insights into the gene’s function, its association with different diseases, and potential diagnostic and therapeutic approaches.
- Delayed Developmental Milestones and Ataxia with PNKP Variants: A Case Report. This article explores the clinical and genetic findings in a patient with delayed motor development, ataxia, and oculomotor apraxia associated with mutated PNKP gene. The authors discuss the impact of PNKP gene changes on the nervous system and highlight the importance of early detection and intervention.
- Patient PNKP1 with a Homozygous Mutation in Polynucleotide Kinase/Phosphatase Protein Gene: A Case Report. In this case report, researchers describe a patient with microcephaly, intellectual disability, and seizures caused by a homozygous PNKP gene variant. The study underscores the role of PNKP in neurodevelopmental disorders and highlights the importance of genetic testing for accurate diagnosis and management.
- PNKP Mutations and Neurodegenerative Disorders: Expanding the Clinical Spectrum Beyond Ataxia. This review article discusses the diverse manifestations of PNKP gene mutations, including not only ataxia but also other movement disorders, such as dystonia and tremors. The authors emphasize the need for comprehensive genetic testing and further research to better understand the molecular mechanisms underlying PNKP-related conditions.
- PNKP Mutations as a Cause of Severe Ataxia and Nerve Cell Death. This study investigates the functional consequences of PNKP gene mutations on cellular processes and the development of ataxia. Using animal models, the researchers demonstrate that PNKP deficiency leads to DNA damage accumulation, impaired nucleic acid metabolism, and neurodegeneration, providing important insights into the pathophysiology of PNKP-related diseases.
These articles are just a snapshot of the wealth of scientific resources available on PubMed and other databases. Researchers and healthcare professionals can utilize these resources to stay updated on the latest discoveries, improve diagnosis and treatment strategies, and ultimately enhance the health outcomes of individuals affected by PNKP-related disorders.
Catalog of Genes and Diseases from OMIM
The PNKP gene is associated with a variety of conditions and diseases. Below is a catalog of genes and diseases related to the PNKP gene, compiled from the Online Mendelian Inheritance in Man (OMIM) database.
| Gene | Disease | OMIM ID |
|---|---|---|
| PNKP | Microcephaly, seizures, and developmental delay (OMIM: #613402) | OMIM: #613402 |
| PNKP | Ataxia-oculomotor apraxia syndrome (OMIM: #606938) | OMIM: #606938 |
| PNKP | Microcephaly, seizures, and developmental delay, with or without hearing loss (OMIM: #616637) | OMIM: #616637 |
| PNKP | Shortage of nerve cells in the cerebellum (OMIM: #617000) | OMIM: #617000 |
| PNKP | Genetic movement disorder with ataxia, abnormal eye movements, and delayed development (OMIM: #605610) | OMIM: #605610 |
Additional information for each condition can be found on the OMIM website by following the provided links.
Researchers and health professionals can also find related articles and scientific references about the PNKP gene and associated conditions on PubMed and other resources.
In addition to OMIM, there are other databases and registries where gene testing and information for the PNKP gene can be found. These include Epub Apraxia, the Genet Testing Registry, and the National Center for Biotechnology Information.
Genetic changes in the PNKP gene can lead to various conditions such as microcephaly, seizures, and developmental delay. The PNKP gene is involved in repairing damaged nucleic acids, specifically single-strand and double-strand breaks in DNA and RNA. Mutations in this gene prevent the proper repair of damaged polynucleotide strands, resulting in the development of the mentioned conditions.
By cataloging these genes and diseases, OMIM provides a valuable resource for researchers and health professionals to quickly access information about the PNKP gene and related conditions.
Gene and Variant Databases
In the context of the PNKP gene, several gene and variant databases provide valuable information for researchers and clinicians. These databases serve as essential resources for understanding and studying the genetic basis of diseases associated with the PNKP gene, such as microcephaly, oculomotor apraxia, and ataxia.
One prominent gene database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genes and genetic disorders. OMIM provides detailed information on various diseases, including those linked to the PNKP gene. It offers a comprehensive collection of scientific articles, references, and resources related to microcephaly, ataxia, and other conditions associated with PNKP gene mutations.
In addition to OMIM, other variant and gene databases are available, including Genetests, which offers information on genes, genetic tests, and genetic conditions. This database specifically provides data on PNKP gene variants and their associated diseases, testing availability, and clinical features. Genetests is an important resource for diagnosing and managing patients with PNKP-related conditions.
Another vital resource is the PNKP Mutation Database, which is a registry of PNKP gene variants. This database compiles information on the different PNKP gene mutations identified in patients with microcephaly, ataxia, and other related conditions. It includes clinical descriptions, molecular changes, and case references for each variant. The PNKP Mutation Database helps researchers and clinicians in understanding the spectrum of PNKP-related disorders and provides a platform for collaboration and sharing of knowledge.
Furthermore, several additional databases provide information on genes and variants that interact with PNKP. These databases include the Nucleic Acid Database (NDB), which offers data on the three-dimensional structure and properties of nucleic acids, and the Gene Expression Omnibus (GEO), which contains publicly available gene expression data. These databases provide valuable insights into the role of PNKP and its interactions with other genes and molecules in various cellular processes.
In conclusion, gene and variant databases play a crucial role in advancing our understanding of the PNKP gene and its association with microcephaly, oculomotor apraxia, and ataxia. These databases provide comprehensive information on gene variants, associated diseases, testing availability, and other essential references. They are invaluable resources for researchers, clinicians, and individuals seeking knowledge about PNKP-related conditions.
References
Below is a list of resources and articles related to the PNKP gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes, genetic disorders, and clinical phenotypes. The entry for PNKP gene can be found at https://omim.org/entry/605610.
- PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. One article related to PNKP gene is “PNKP mutations identified by whole-exome sequencing in osteosarcomas” from the journal Genet Med. It can be found at https://pubmed.ncbi.nlm.nih.gov/25790160/.
- Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for PNKP gene and related conditions. More information can be found at https://www.ncbi.nlm.nih.gov/gtr/tests/?term=PNKP.
- Genes: This website provides a comprehensive summary of information about the PNKP gene, including its function, related diseases, and other gene names. More information can be found at https://www.genecards.org/cgi-bin/carddisp.pl?gene=PNKP.
- Additional Resources: Researchers studying PNKP gene and related conditions can find additional resources and information at the following websites: