RNU4-2 / ReNU Syndrome is a neurodevelopmental disorder caused by variants in the RNU4-2 gene.
Variants in the RNU4-2 gene, a non-coding gene responsible for producing U4 snRNA, have been identified as a significant cause of previously undiagnosed neurodevelopmental disorders. These variants, particularly the insertion of a T between positions 64 and 65 of the gene, disrupt the RNA splicing process, causing errors in how RNA is processed and leading to improper protein synthesis. This exciting discovery highlights the importance of whole-genome sequencing, as traditional exome sequencing often overlooks non-coding genes like RNU4-2.
Our Support Includes:
· Peer-to-Peer Support
Connect with other families who understand your journey. We offer online groups, one-on-one connections, and regional meetups.
· Information & Guidance
Access practical advice on navigating healthcare, education, and social services. We provide downloadable guides and personalised support.
· Emotional Support
We offer a listening ear and a safe space to share your experiences. Our team includes parents and carers who’ve walked this path.
At ReNU Syndrome UK, we know that walking this path with your family can feel overwhelming at times. That’s why we’ve created a warm, inclusive support group—our safe space where parents, siblings, and caregivers can connect, share stories, and learn together. Whether you’re looking for practical advice, emotional encouragement, or simply a listening ear, our group welcomes you with understanding and compassion. We meet regularly (both online and in person across the UK), led by fellow families who truly get it. From navigating medical appointments to celebrating small victories—every journey matters here. Together, we’re stronger. You’re not alone.
Support and Connection
This map may be used to facilitate collaboration within our community in the following ways:
DRIVE AWARENESS * BUILD COMMUNITY * ADVANCE RESEARCH
Locate clusters of patients & identify areas that may benefit from clinical specialists * Find convenient locations for holding events, conferences, or regional meetup groups * Track numbers of patients and variants globally to encourage research and treatment development