Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report

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29 Oct 2026 0 comments

Pathogenic variants in RNU4-2, encoding for a critical component of the major spliceosome, cause a newly recognized autosomal dominant disorder. Patients with RNU4-2/ReNU syndrome exhibit global developmental delay, microcephaly, dysmorphic features, seizures, hypotonia, and multi-organ involvement. Here, we detailed clinical findings and laboratory evaluation of a 3-year-old girl harboring a common RNU4-2 pathogenic variant. Her clinical presentation and disease course were similar to...