Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations - PubMed
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- #intron retention
- #minor spliceopathy
- #RNU6ATAC
- Three individuals with biallelic variants in RNU6ATAC, encoding U6atac minor spliceosomal snRNA, exhibit a multisystem minor spliceopathy.
- RNAseq analysis revealed transcriptome-wide minor intron retention (MIR) in two unrelated individuals, leading to the identification of RNU6ATAC variants.
- Clinical manifestations varied but included short stature, refractory epilepsy, microcephaly, developmental delay, ataxia, syndactyly, hypereosinophilia, hypothyroidism, immunodeficiency, and inflammatory conditions.
- A third individual showed overlapping features, including microcephaly, growth failure, severe immunodeficiency, and skeletal abnormalities.
- The study highlights the role of minor spliceosome dysfunction in human disease and the utility of integrating genomic and transcriptomic data for diagnosing splicing disorders.