Presentation and Photography: Long Island Marriott, Uniondale, NY

In the Press: ReNU Washington Post Cover Story Unique_Autumn2024MagazineNo100_RNU4-2

What Do We Know About ReNU Syndrome?

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.

The name “ReNU” was given by families and researchers to symbolize the “renewed hope” for a better future for those affected. This diagnosis opens avenues for future research and potential treatments for those affected, and aids in the understanding that there wasn’t anything parents did prior to or during pregnancy to cause the disorder.

ReNU Syndrome is currently characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).