The image shows the SynGAP Protein (Green) in the brain. The image is credited to Yoichi Araki.
SYNGAP1-related non-syndromic intellectual disability is a rare genetic disorder caused by a variant on the SYNGAP1 gene.
The SYNGAP1 gene is located on Chromosome 6 and is responsible for producing the SynGAP protein. This protein acts as a regulator in the synapses - where neurons communicate with each other. A variant of the SYNGAP1 gene leads to the gene not producing enough SynGAP protein. Without the right amount of SynGAP protein we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SynGAP patients.
SYNGAP1 is considered a spectrum disorder since patients are not affected exactly the same way or with the same severity. It is not known what impacts the symptoms or their severity. The list below is a combination of most seen symptoms. SYNGAP1 patients do not always present all of these symptoms.
SYNGAP1 Syndrome is caused by a variant on the SYNGAP1 gene (6p.21.32).
El cuerpo humano está hecho de trillones de células. Cada célula contiene 23 pares de cromosomas (46 en total). Cada cromosoma contiene miles de genes. La mayoría de los genes también vienen en pares y obtenemos una copia de cada padre.
El papel de los genes es producir proteínas. Las proteínas se utilizan para regular los tejidos y órganos del cuerpo.
A gene can stop working or no longer work properly when a variant (sometimes called a mutation or alteration) occurs. A variant is a mistake that happens, similar to a typo, when the DNA is copied from cell to cell or due to environmental factors.
A de novo variant means the variant is globally present for the first time in the family and occurred very early in the reproductive process. Most SynGAP patients have de novo variants. If you have access to a genetic report, this article can help you understand it better.
The main types of variants found are Nonsense, Missense, Frameshift, Duplication and Deletion. For more information on these you can visit: ghr.nlm.nih.gov/primer/mutationsanddisorders/possiblemutations
SYNGAP1 variants are surprisingly common, with the incidence reported as 1-4 out of 10,000 individuals. This comprises approximately 1-2% of all Intellectual Disability (ID) cases, making it one of the most common genetic causes of ID, similar to more well known syndromes like Fragile X, Angelman and Rett.
Para saber más sobre la incidencia prevista de SYNGAP1, consulte este artículo detallado de SRF.
New SYNGAP1 patients are identified each week. We have now more than 760 SynGAP patients identified worldwide. This number is too low, which means SYNGAP1 continues to be significantly under-diagnosed.
There is currently no cure or specific treatment for SYNGAP1. However, intense therapy can help SYNGAP1 patients improve their skills and reach milestones.
The most common therapies available are Physical Therapy, Occupational Therapy, Speech Therapy, Developmental Therapy and Applied Behavioral Analysis (ABA) Therapy.
SYNGAP1 patients respond well to alternative therapies, including hippotherapy, aqua therapy, music therapy, PROMPT Therapy, etc. Don’t worry if your child is taking longer than others. SynGAP patients will continue to make progress and reach key milestones at their own pace.
Research for treatment is happening around the world with labs located in the United States, Canada, Australia, India and Europe.
SynGAP Family Profiles
An excellent webinar about SYNGAP1 by Dr. Heather Mefford, MD, PhD, Physician Scientist at St. Jude Children's Research Hospital
A profile of SRF by the DISORDER Channel