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.
· European Journal of Human Ge... · 0 citations