Research
PLEASE send this information to your doctor!!!!
This is VERY important, so please read!
Because this is a newly discovered syndrome and extremely complicated, continued research is crucial. The first thing you need to do is to please have your genetic professional contact frank.kooy@uantwerpen.be or anke.vandijck@uantwerpen.be at the Medical Center of Genetics University Antwerpen. They can also be reached through www.adnpgene.com.
It is very important that they update their ADNP research data with your child’s key clinical data. It is vital that you have your genetics doctor or the whole exome sequencing referring physician submit your child’s information. If your genetics doctor is not available, please forward this information to your child’s pediatrician and ask them to submit your child's clinical data.
Because this is a newly discovered syndrome and extremely complicated, continued research is crucial. The first thing you need to do is to please have your genetic professional contact frank.kooy@uantwerpen.be or anke.vandijck@uantwerpen.be at the Medical Center of Genetics University Antwerpen. They can also be reached through www.adnpgene.com.
It is very important that they update their ADNP research data with your child’s key clinical data. It is vital that you have your genetics doctor or the whole exome sequencing referring physician submit your child’s information. If your genetics doctor is not available, please forward this information to your child’s pediatrician and ask them to submit your child's clinical data.
For ongoing research on the ADNP gene and protein and on NAP (davunetide,under patent protection, Professor I. Gozes inventor), please contact Professor Illana Gozes at: igozes@post.tau.ac.il (please see publications).
Important Publications regarding ADNP
LINKS TO RELATED ARTICLES:
Sfari Gene: ADNP; Summary and Sequence Variants
https://gene.sfari.org/GeneDetail/ADNP
A SWI/SNF related autism syndrome caused by de novo mutations in ADNP.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990853/
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC413530
Brain Gene Emerges As Strong Autism Candidate.
https://spectrumnews.org/news/brain-development-gene-emerges-as-strong-autism-candidate
The Medical Odyssey of an Undiagnosed Child.
https://www.aftau.org/weblog-medicine--health?=&storyid4704=2216&ncs4704=3
The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey - ADNP Mutation.
http://link.springer.com/article/10.1007/s12031-015-0586-6/fulltext.html
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders. Http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528801/
Antwerp researchers identify autism gene.
http://www.flanderstoday.eu/innovation/antwerp-researchers-identify-autism-gene
ADNP activity-dependent neuroprotector homeobox.
http://www.ncbi.nlm.nih.gov/gene/23394
Vasoactive intestinal peptide (VIP) regulates activity-dependent neuroprotective protein (ADNP) expression in vivo.
http://www.ncbi.nlm.nih.gov/m/pubmed/17952637/?i=2&from=/25895853/related
ADNP: in search for molecular mechanisms and innovative therapeutic strategies for frontotemporal degeneration.
http://www.ncbi.nlm.nih.gov/m/pubmed/26578950/?i=6&from=/25895853/related
Activity-Dependent Neuroprotective Protein Snippet NAP Reduces Tau Hyperphosphorylation and Enhances Learning in a Novel Transgenic Mouse Model.
http://jpet.aspetjournals.org/content/323/2/438.long
*FOR A FULL LIST OF ADNP RELATED PUBLICATIONS PLEASE SEE:
http://www.ncbi.nlm.nih.gov/pubmed/?term=Gozes+ADNP
Websites with direct ADNP syndrome information
Unique UK Rare Chromosome Disorder website (www.rarechromo.org)
www.rarechromo.org/information/Chromosome%2020/ADNP%20related%20syndrome%20FTNW.pdf
www.rarechromo.org/information/Chromosome%2020/ADNP%20related%20syndrome%20FTNW.pdf
All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.
This information guide is not a substitute for personal diagnosis. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change.
This information guide is not a substitute for personal diagnosis. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change.
