DMAP1 Genetic defect
We (DMAP1 Syndrome Association) aim to facilitate networking and exchange among people with the DMAP1 gene defect and their parents, doctors, and relatives.
Furthermore, we are committed to promoting science and research both in and outside of Germany, as well as actively raising public awareness.
DMAP1 syndrome is a rare genetic disorder caused by problems with DNA repair. The DMAP1 gene, which normally helps repair damaged DNA in cells, does not function properly in affected individuals. This can lead to developmental delays and other health problems.
We also have a donation account. We appreciate every contribution that brings us closer to our goal of researching and improving therapies for DMAP1 syndrome. If you require a donation receipt, please include your name and address in the payment reference.
What is DMAP1?
The gene defect in the DMAP1 gene (DNA Methyltransferase 1-Associated Protein 1) is a rare genetic disorder associated with neurological and developmental abnormalities. DMAP1 plays a central role in regulating gene expression and is involved in epigenetic processes, particularly DNA methylation, which is a key mechanism for controlling gene activity.
Function of the DMAP1 gene:
DMAP1 encodes a protein that interacts with DNA methyltransferase 1 (DNMT1), an important enzyme for maintaining DNA methylation patterns after cell division. These methylation patterns are crucial for regulating which genes are active or inactive in a cell. DMAP1 is also part of larger protein complexes involved in chromatin modification, which in turn affects DNA packing density and thus regulates gene activity.
The syndrome arises from a mutation in the DMAP1 gene. This gene is important for repairing DNA damage, which constantly occurs in the body. If this damage is not properly repaired, it can impair children's development.
Prevalence
Because DMAP1 syndrome has only recently been researched, there are no precise figures on how many people are affected. However, it is believed that the disease is very rare. Many cases may go undetected because the symptoms are nonspecific and can only be identified through specific genetic tests.
Effects of a defect in the DMAP1 gene:
Mutations in the DMAP1 gene can lead to serious developmental disorders. The exact clinical symptoms can vary, but the most common include:
- Developmental delays: Children with this mutation often show delayed mental and physical development.
- Neurological disorders: This can manifest as hypotonia (reduced muscle tone), movement disorders, or seizures.
- Behavioral problems: Some affected individuals have autism-like symptoms or problems with social interaction.
- Speech and communication problems: Many patients have difficulty developing speech or communicating clearly.
- Facial dysmorphia: In some cases, characteristic facial changes may also occur.
Each child may have different symptoms, and not all children show the same signs.
Diagnosis:
A genetic defect in the DMAP1 gene can be detected through genetic testing. This is typically performed when a genetically determined developmental disorder is suspected, especially if characteristic symptoms such as neurological impairments or developmental delay are present.
Treatment:
Currently, there is no specific treatment for the DMAP1 gene defect. Therapy focuses on alleviating symptoms and supporting affected individuals through:
- Early intervention and specialized educational support to compensate for developmental delays.
- Physical therapy to improve muscle tone and motor skills.
- Occupational therapy to support daily living skills.
- Speech therapy for speech and communication difficulties.
History
DMAP1 syndrome was discovered through genetic studies investigating DNA damage repair. Researchers like Dong Li have studied the DMAP1 gene and found that it plays a crucial role in cell health. Their work helps to better understand why some children experience developmental problems.
Because it is a relatively recent discovery, research is still ongoing to learn more about the precise function of DMAP1 and the effects of mutations in this gene.
Scientists are working to better understand DMAP1 syndrome. They are investigating how the gene could be repaired or how to support the body in better repairing DNA damage. The goal is to find better treatment options in the future that can improve the quality of life for those affected.
News
Februray 7, 2026:
December 29, 2025:
In the current issue of the journal OND (Orphan & New Drugs - Journal for rare diseases and new drugs in pediatrics) an article about our association DMAP1 Syndrome e.V. was published.
ORPHAN & NEW DRUGS, 4. Jahrgang · Heft 2 · 2025, Max Schmidt-Römhild GmbH & Co. KG, Lübeck
December 4, 2025:
Our homepage has been redesigned and is now live. With the support of the 'Inclusion Check' through funding from the Ministry of Labour, Health and Social Affairs of the State of North Rhine-Westphalia (MAGS), we were able to make our website accessible.
April 15, 2025:
Our association, "DMAP1 Syndrome e.V.", is now officially registered with the Neuss District Court under registration number 3244.
April 30, 2025:
We have now also received our exemption certificate for corporation tax from the Neuss tax office. We are therefore now recognized as a non-profit organization.
Contact
DMAP1 Syndrom e.V.
Görgesheideweg 135
40670 Meerbusch - Germany
For questions or to contact us, please use the following email address.
Niels Schneider
Chairman
Isabell Schneider
2nd Chairwoman
Markus Schneider
Treasurer
privacy policy
1. Data Protection at a Glance
General Information
The following information provides a simple overview of what happens to your personal data when you visit this website. Personal data is any data that can be used to personally identify you. Detailed information on data protection can be found in our privacy policy below.
Data Collection on this Website
Who is responsible for data collection on this website?
Data processing on this website is carried out by the website operator. You can find their contact details in the section "Information on the Responsible Party" in this privacy policy.
How do we collect your data?
On the one hand, your data is collected when you provide it to us. This could include, for example, data that you enter into a contact form.
Other data is collected automatically by our IT systems when you visit the website, either automatically or with your consent. This is primarily technical data (e.g., internet browser, operating system, or time of page access). This data is collected automatically as soon as you access this website.
Data is collected in two ways: firstly, when you provide it to us. This includes, for example, data that you enter into a contact form.
Secondly, data is collected automatically by our IT systems when you visit the website. This includes, for example, technical data (e.g., internet browser, operating system, or time of page access). This data is collected automatically as soon as you access this website.
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```````````````````` What do we use your data for?
Some data is collected to ensure the proper functioning of the website. Other data may be used to analyze your user behavior.
What rights do you have regarding your data?
You have the right to receive information free of charge at any time about the origin, recipients, and purpose of your stored personal data. You also have the right to request the correction or deletion of this data. If you have given your consent to data processing, you can revoke this consent at any time for the future. Furthermore, you have the right, under certain circumstances, to request the restriction of the processing of your personal data. You also have the right to lodge a complaint with the competent supervisory authority.
You can contact us at any time with any questions regarding this or other data protection matters.
Analytics tools and third-party tools
When you visit this website, your browsing behavior may be statistically analyzed. This is primarily done using so-called analytics programs.
Detailed information about these analytics programs can be found in the following privacy policy.
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IONOS
The provider is IONOS SE, Elgendorfer Str. 57, 56410 Montabaur, Germany (hereinafter referred to as IONOS). When you visit our website, IONOS collects various log files, including your IP address. For details, please see the IONOS privacy policy: https://www.ionos.de/terms-gtc/terms-privacy.
The use of IONOS is based on Art. 6 para. 1 lit. f GDPR. We have a legitimate interest in ensuring the most reliable presentation of our website possible. If consent has been requested, processing is carried out exclusively on the basis of Art. 6 para. 1 lit. a GDPR and Section 25 para. 1 TTDSG (German Telecommunications and Telemedia Data Protection Act), insofar as the consent includes the storage of cookies or access to information on the user's device (e.g., device fingerprinting) within the meaning of the TTDSG. Consent can be withdrawn at any time.
Data Processing Agreement
We have concluded a data processing agreement (DPA) for the use of the aforementioned service. This is a legally required agreement under data protection law, which ensures that the service provider processes the personal data of our website visitors only according to our instructions and in compliance with the GDPR.
3. General Information and Mandatory Disclosures
Data Protection
The operators of this website take the protection of your personal data very seriously. We treat your personal data confidentially and in accordance with the statutory data protection regulations and this privacy policy.
When you use this website, various personal data are collected. Personal data is data with which you can be personally identified. This privacy policy explains what data we collect and what we use it for. It also explains how and for what purpose this is done.
Please note that data transmission over the Internet (e.g., when communicating by email) can have security vulnerabilities. Complete protection of data against access by third parties is not possible.
Notice regarding the data controller
The data controller for this website is:
Niels Schneider
Görgesheideweg 135
40670 Meerbusch
Email: info@dmap1.de
The data controller is the natural or legal person who, alone or jointly with others, determines the purposes and means of the processing of personal data.
Imprint
Responsible party:
DMAP1 Syndrome Association
Goergesheideweg 135
40670 Meerbusch
Represented by:
Niels Schneider
Contact:
Phone: +49 (0) 172 218 30 45
Email: info@dmap1.de
Register of Associations: VR3244
Editorially responsible:
DMAP1 Syndrome Association
Goergesheideweg 135
40670 Meerbusch
Consumer Dispute Resolution/Universal Arbitration Board
We are neither willing nor obligated to participate in dispute resolution proceedings before a
consumer arbitration board.
Source:
https://www.e-recht24.de/impressum-generator.html
