WHAT IS YWHAG?
YWHAG, which encodes an adapter protein 14-3-3γ, is highly expressed in the brain and plays a critical role in a wide range of cellular processes, including signal transduction, cell cycle regulation, and protein trafficking. Genetic mutations with YWHAG are typically a "de novo" (spontaneous, noninherited) mutation that occurs in one of the two copies of the YWHAG gene. This means that patients express one healthy copy and one mutated copy or variant. There are multiple variants of the gene reported in patients that affect individuals differently along the spectrum of severity.
A rare disease impacts a small number of people worldwide. However, when it is your child or family member that is diagnosed-- your whole world changes.
Symptoms May Include
Intellectual disability/global developmental delay
Autism Spectrum Disorder
Unusual gait or walking pattern
Muscle tone issues
Gross motor delays or disabilities
Fine motor delays or disabilities, (i.e. difficulty using hands purposefully)
Speech and language delays or disabilities
YWHAG OVERVIEW AND ANALYSIS
The Foundation is proud to announce the publishing of a research study on the YWHAG genetic mutation and specifically the variant, (c.394C>T (p.Arg132Cys), in collaboration with the University of Alabama. This report delves within the inner workings of the gene and explains causes behind primary symptoms such as loss of function.
JOIN US IN OUR CAUSE
Living with YWHAG genetic mutation can be an incredibly challenging experience for those affected and their families. The physical, emotional, and financial toll of this condition can be overwhelming, leaving many individuals feeling isolated and unsupported. However, with your help, we can provide much-needed support to those living with YWHAG genetic mutation, and accelerate the search for a cure. By donating to our Foundation which funds research and support programs for those affected by this condition, you can make a real difference in the lives of those who need it most. Join us in the fight against YWHAG genetic mutation today and help bring hope and healing to those affected by this devastating disorder.