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Article

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Orphanet journal of rare diseases - 10 Mar 2026

Lovric Svjetlana, Berking Ann-Cathrine, Ringshausen Felix C, Körholz Julia, Porrmann Joseph, Hütter Sylvia, Bräsen Jan H, di Donato Nataliya, Schmidt-Ott Kai M, Witte Torsten, von Hardenberg Sandra, Sogkas Georgios

Abstract excerpt

BACKGROUND: Homozygous 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...

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Identifiers

PMID: 41808109
DOI: 10.1186/s13023-026-04300-x
PMCID: PMC13063612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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