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Author

M. Spielmann

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Open access Sep 2026

Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI.

Using long-read sequencing, two biallelic splice-site variants in CPLANE1, c.8633-4_8633-3del and an Alu element insertion close to an exon-intron boundary are found and re-classify the c.8633-4_8633-3del variant from a variant of uncertain significance (VUS) to likely pathogenic.

J. Pozojevic, H. Sczakiel, S. Balachandran et al. · 0 citations
Open access Jul 2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

This work provides mechanistic evidence that a position effect at the SOX3 locus can cause hereditary spastic paraplegia and identifies a 3D regulatory rewiring of SOX3 and transcriptional dysregulation of SOX3 targets in iPSC-derived neurons.

T. Terkelsen, V. Yumiceba, Joshua Kim et al. · 0 citations

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