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Article

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

PloS one - 1 Jan 2020

Benoit-Pilven Clara, Besson Alicia, Putoux Audrey, Benetollo Claire, Saccaro Clément, Guguin Justine, Sala Gabriel, Cologne Audric, Delous Marion, Lesca Gaetan, Padgett Richard A, Leutenegger Anne-Louise, Lacroix Vincent, Edery Patrick, Mazoyer Sylvie

Abstract excerpt

Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-generation sequencing of clinically heterogeneous cohorts (children with either a suspected genetic disorder or a congenital microcephaly) recently identified mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32628740
DOI: 10.1371/journal.pone.0235655
PMCID: PMC7337319

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