Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

HGG AdvJun 23, 2026 (epub)
Case ReportMedical GeneticsOpen access

Jonas Böhnlein, Johann G Maass, Julia Dennig et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

We report monozygotic twins with HNRNPU-related neurodevelopmental disorder who harbor two closely spaced mosaic single-nucleotide deletions on the same allele (c.1463del [p.Pro488Glnfs∗13] and c.1466del [p.Lys489Argfs∗12]). The variants are mutually exclusive on individual DNA molecules and result in three distinct cellular lineages within each individual.

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Published in HGG Adv. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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