Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.

ATP-dependent RNA helicase DDX3X is an enzyme that in humans is encoded by the DDX3X gene. [5][6][7] DEAD box proteins are putative RNA helicases characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD).

DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone. The syndrome develops due to mutations of the DDX3X gene located on the X chromosome, and the clinical picture varies depending on the specific mutation.

2024年12月24日 · DDX3X (DEAD-Box Helicase 3 X-Linked) is a Protein Coding gene. Diseases associated with DDX3X include Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type and X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome. Among its related pathways are Innate Immune System and Toll-like receptor signaling pathway.

由该基因编码的蛋白质是大型 DEAD-box 蛋白质家族的成员，该家族由保守的 Asp-Glu-Ala-Asp (DEAD) 基序的存在定义，并具有 ATP 依赖性 RNA 解旋酶活性。 据报道，这种蛋白质显示出高水平的不依赖于 RNA 的 ATPase 活性，并且与大多数 DEAD-box 解旋酶不同，ATPase 活性被认为受到 RNA 和 DNA 的刺激。 该蛋白质具有多个保守结构域，被认为在细胞核和细胞质中均发挥作用。 核作用包括转录调控、mRNP 组装、pre-mRNA 剪接和 mRNA 输出。 在细胞质中，这 …

DDX3X-related neurodevelopmental disorder (DDX3X-NDD) typically occurs in females and very rarely in males. All afected individuals reported to date have developmental delay / intellectual disability (ID) ranging from mild to severe; about 50% of …

If you or your child is affected by DDX3X Syndrome, you can help advance research by participating in the DDX3X Registry. Your data can help find better treatments and a cure. Why Register? Copyright © 2022 DDX3X Foundation. All Rights Reserved. DDX3X Foundation Registry is an initiative of DDX3X Foundation.

What is DDX3X syndrome and how is it caused? DDX3X syndrome is a genetic condition that occurs in females, and very rarely in males with developmental delay and/or intellectual disability. The first individuals with this condition were reported in 2015.

DDX3X Syndrome is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy-Walker Syndrome, or a generic developmentally delayed label. It is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments.

We are collecting data that will describe in more detail the imaging and clinical findings in children with DDX3X, which will be a useful starting point for understanding the range of challenges that children with variants in DDX3X may face.