ArticleOrphanet journal of rare diseases2026
Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster.Nature communications · 2026Article
- Expanding the clinical spectrum of CD3γ deficiency: comprehensive characterization of adult-onset disease and integrated reevaluation of all reported patients.Frontiers in immunology · 2026Review
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12 authors.
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Abstract
backgroundHomozygous or compound heterozygous variants in RNU4ATAC, which transcribes a non-coding RNA component of the minor spliceosome, have been associated with a spectrum of disorders, collectively known as RNU4ATAC-related spliceosomeopathies. The phenotypic spectrum of RNU4ATAC-related disease is characterized by dysmorphic features, growth delay, neurological and skeletal features, whose severity ranges from the microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) to the milder Roifman syndrome.
objectivesTo characterize the clinical spectrum and evaluate long-term outcomes of RNU4ATAC-related diseases.
methodsWe evaluated the phenotypic features of four novel patients with deleterious RNU4ATAC variants, diagnosed by means of whole genome sequencing. Same features were evaluated in previously published cases, identified by literature research on PubMed.
resultsWe identified four novel cases with deleterious compound heterozygous variants in RNU4ATAC, which were not restricted to the 5’ stem-loop, including three adult patients. Reported cases expand the clinical spectrum of RNU4ATAC-related disorders, highlighting renal disease, autoimmunity and systemic inflammation as possibly more frequent yet previously under-recognized features. Immunological investigations reveal enhanced HLA-DR and PD-1 expression in T cells from tested patients, suggesting T cell activation and exhaustion. Reevaluation of all previously published cases confirms the strong correlation of RNU4ATAC variants located exclusively at the 5’ stem-loop with severe lethal disease falling under MOPD1. Genotypes carrying at least one variant that spares the 5′ stem-loop are associated with a milder phenotype and later onset.
conclusionHomozygous or compound heterozygous RNU4ATAC variants affecting the 5’ stem-loop region are associated with severe phenotypes and adverse disease courses. In contrast, genotypes sparing the critical 5′ stem-loop region of RNU4ATAC can cause a complex phenotype that is not necessarily dominated by dysmorphic features or growth failure, but rather by immunodeficiency and immune dysregulation.
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