2020年8月27日 · DDX3X -related neurodevelopmental disorder (DDX3X -NDD) typically occurs in females and very rarely in males. All affected individuals reported to date have developmental delay / intellectual disability ranging from mild to severe; about 50% of affected girls remain nonverbal after age five years.

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.

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.

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. Recently Diagnosed?

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.

2019年9月18日 · DDX3X是一种酶，当发生突变时，参与多种癌症的产生，比如 乳腺癌 、肺癌和脑癌，包括成神经管细胞瘤，即一种最为常见的恶性儿童脑瘤。 DDX3X突变也与DDX3X综合征有关，这种综合征的特征是智力障碍、癫痫发作、自闭症、肌肉张力差和身体发育缓慢。 这些研究人员证实DDX3X也处于决定应激细胞（stressed cell，即遭受应激的细胞）生死的十字路口。 这种分子有助于调节先天免疫反应。 他们报道有证据表明DDX3X的可用性影响细胞如何理解和应对 …

2021年2月24日 · In this review, we describe the function of DDX3X in RNA metabolism, cellular stress response, innate immune response, metabolic stress response in pancreatic β cells and embryo development. Then, we focused on the role of DDX3X in cancer biology and systematically demonstrated its functions in various aspects of tumorigenesis and development.

DDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X syndrome can also present with behavioral challenges, motor delays and movement disorders, epilepsy, and congenital malformations.

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 syndrome is a surprisingly common newly discovered genetic neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, language delays, attention-deficit/hyperactivity disorder, and medical comorbidities.